Molecular Syndromology

Article	Citations
Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals	11
Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract	11
Acknowledgement to Reviewers	9
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency	8
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion	8
Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report	8
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report	8
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C	7
Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability	6
A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7	6
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability	6
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child	5
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with <i>GSX2</i> and <i>PCDH12</i> Variants	5
D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant	5
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome	5
Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing	5
A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis	5
A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits	5
Identification of the Genetic Causes of Inherited Diseases in a North African Biobank: Implications for Genetic Diagnosis	5
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia	5
A Novel GATAD2B Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with Camptodactyly	5
Arg339Gln Is a Recurrent Variant in Rare Combined Oxidative Phosphorylation Deficiency 4: A New Patient with Biallelic TUFM Gene Variant	5
Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation	5
Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant	5
Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship	5

New Insights into the Relation between Cognition, Behavior, and the CHD5 Gene: A Case-Report of an Adult Male with Parenti-Mignot Neurodevelopmental Syndrome	5
Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?	5
A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum	5
A Novel De Novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism	5
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature	4
A Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency	4
Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy	4
Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies	4
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy	4
Late Diagnosis of a 3p26.3p25.2 Microduplication in a Young Adult with Mild Neurodevelopmental Features: A Case Report and Literature Review	4
A Novel Inflammatory Autoimmune-Like NTRK1-Associated Phenotype in an Adult Man	4
Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders	4
Novel Mutation in the <i>HSD17B10</i> Gene Accompanied by Dysmorphic Findings in Female Patients	4
C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis	4
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene	4
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly	3
CHOPS Syndrome: A Rare Malformation Syndrome with De Novo AFF4 Gene Variant	3
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis	3
Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO Gene	3
Genetics of Mitochondrial Aminoacyl-tRNA Synthetases Associated with Sensorineural Hearing Loss	3
Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation	3
Clinical and Molecular Features of 11 Patients with Different Subtypes of Ehlers-Danlos Syndrome	3
One-Carbon Metabolism and Midbrain Dopaminergic Cells in Lesch-Nyhan Disease	3
Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant	3
Comparative Small RNA Sequencing Reveals Candidate Functional miRNAs in Nonketotic Hyperglycinemia	3
Replication-based mechanism underlies a complex dup(18p)/del(18q) rearrangement not derived from parental inversion	3
A Homozygous Missense Variant in <i>HSD17B4</i> Identified in Two Different Families	3
The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant	3
A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability	3
Identification of Novel and Recurrent FBN1 Gene Mutations in Two Unrelated Turkish Families with Isolated Ectopia Lentis: A Case Report with Insights from a Literature Review	3
A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda	3
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH	3
A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism	3
A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy	3
Diets-Jongmans Syndrome due to a Novel KDM3B Variant: The First Molecularly Confirmed Case from Turkey	3
Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate	2
Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels	2
Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders	2
Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye	2
Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the <i>EZH2</i> Gene	2
Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant	2
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review	2
Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants	2
Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia	2
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features	2
Investigation of Genetic Changes in Three Families with Bipolar Disease	2
A Novel Compound Heterozygous CYP27A1 Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family	2
Out-of-frame transcript and in-frame deletion owing to a novel splice mutation of COL2A1 (c.1266+2T>A) in an adult with Kniest dysplasia: A case report	2
Meckel–Gruber syndrome due to homozygous c.16del (p.Leu6SerfsTer15) variant in the TCTN1: first case from Türkiye	2
Front & Back Matter	2

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report	2
Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome	2
A Novel KMT5B Frameshift Variant Presenting with Autism and Psychiatric Features: Intrafamilial Phenotypic Variation – A Case Report	2
The Opportunities and Challenges in the Molecular Mechanism Research of Congenital Heart Disease: A Review	2
First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations	2
Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285	2
Erratum	2
Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review	2
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency	2
Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society	2
A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3	2
Investigation the Expression Levels of Exosomal miRNAs in the Patients - Myocardial Infarction with Non-Obstructive Coronary Arteries (MINOCA)	1
A Novel Synonymous Homozygous c.2904G>A Mutation in the MYO7A Gene Associated with Severe Deafness and Myopia Syndrome： A Case Report in a Chinese Family	1
22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders	1
Coexistence of Rare Genetic Disorders in a Consanguineous Family: Case Study of KLHL24-Related Hypertrophic Cardiomyopathy and Char Syndrome	1
Erratum	1
Cobalamin J disorder in a teenage boy with recurrent abdominal pain attacks: A case report and literature review	1
A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review	1
Novel clinical and genetic findings in Laurin-Sandrow Syndrome: a case report	1
A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene	1
Erratum	1
Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review	1
Erratum	1
A novel X-linked variant c.1772delG (p.G591fs*20) in IRS4 in two related patients with central hypothyroidism	1
An Atypical Neurosensory-Predominant Presentation Associated with a Homozygous NDUFS3 Variant: A Diagnostic Challenge Involving Retinal and Hearing Phenotypes	1
A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature	1
CRTAP-Related Osteogenesis Imperfecta: Clinical Variability and a Potential Founder Variant in CRTAP	1
CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders – Case Reports	1
Shifting the Focus of Molecular Syndromology from Individual Diagnoses to Outcome Analyses	1
Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the <i>AAAS</i> c.1331+1G&gt;A Variant, and Implications for Genetic Diagnosis	1
A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly	1
Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report	1
Clinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score	1
Role of hyperlipidemia-related PCSK9, APOE, and LRP8 variants in restenosis after stent implantation in male patients: a case-control study	1
Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review	1
A New Case with Weaver Syndrome: Delineating Natural Course and Growth Pattern, Further Clarifying Clinical Phenotype	1
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review	1
Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novo TRIO Variant in Dizygotic Twins	1
Acknowledgement to Reviewers	1
Front & Back Matter	1
SHH variant in a father and a son with tracheobronchial malformation	1
Expandingthe Phenotypic Spectrum of PUS3 Deficiency: A p.Tyr71Cys Case Demonstrating a Stable, Nonprogressive Leukoencephalopathy Pattern	1
A Novel <i>ZBTB20</i> Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features	1
Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes	1
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19	1
Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement	1
High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene	1
CHAMP1-Related Neurodevelopmental Disorder: Two Turkish Cases with Novel Truncating Variants and Literature Review	1
Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report	1
A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family	1
A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review	1
Ocular Manifestations of Hurler-Scheie Syndrome: Recurrence of Host Disease in the Corneal Transplant	1
A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy	1
Erratum	1
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development	1
A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating <i>UVSSA </i>Variant: Might This Be a New Cause?	1
A Rare Presentation of Homozygous Pathogenic Variant in <i>MC2R</i> Gene with Salt-Wasting Crisis in a Neonate	1
Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months	1
Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant	1
Homozygous Intragenic Deletion in <i>WDR62</i> in Siblings with Primary Microcephaly	1
A New Family with X-Linked Intellectual Disability 90: A Case Report of a Novel DLG3 Variant and Literature Review	1
HIRA, NKX2-5, and GATA4 Alterations versus Cardiac Malformations Related to 22q11.2 Deletion Syndrome	1
Leigh Syndrome due to <i>MT-ATP6</i> Variants: A Case Presentation and the Review of the Literature	1
Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in <i>SETBP1</i> Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development	1
A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus	1
Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy	1
SEVERE THROMBOCYTOPENIA AND FACIAL ASYMMETRY IN A MEXICAN PATIENT WITH NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR: CLINICAL OBSERVATIONS AND DIAGNOSTIC CONSIDERATIONS	1
Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11	1
Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene	1
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes	1
Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases	1
<i>TPP1</i> Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2	1
Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes	0
EEF2-Related Neurodevelopmental Disorder Is Clinically Recognizable	0
Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome	0
Smith-Lemli-Opitz Syndrome with Biallelic c.1295A&gt;G (p.Tyr432Cys) Variant in the <i>DHCR7</i> Gene in a 73-Year-Old Woman: Report of the Oldest Patient	0
Acknowledgement to Reviewers	0
A Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation	0
WDR81 Mutation in Two Siblings: A Case Report and Review of Literature	0
Left Ventricular Systolic Dysfunction Related to Adrenal Insufficiency in a Case due to Autoimmune Polyendocrine Syndrome Type 1 with a Novel Variant	0

Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient	0
TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature	0
A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature	0
A Novel Intracellular Domain Missense Variant in GRM7 Associated with Early-Onset Neurodevelopmental Encephalopathy	0
Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior	0
A Colombian Boy with a Novel de novo PURA Variant: A Case Report	0
Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature	0
Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease	0
<i>COL12A1</i> Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy	0
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome	0
Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience	0
Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability	0
PHRINL Syndrome: A Case of Infantile Cataract and Cardiomyopathy	0
Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome	0
Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the <i>EPG5</i> Gene	0
A Long-Term Follow-Up of a Patient with a Novel <i>PORCN</i> Variant and Additional Clinical Features	0
Genetic variations in BCL3, MDM4, KLF14, and miR-146a and their associations with the predisposition and progression of myeloproliferative disorder and chronic myeloid leukemia patients	0
Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis	0
Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families	0
Molecular Genetic Confirmation of Jaffe–Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant	0
Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants	0
A Genetics Study in the Foreskin of Boys with Hypospadias	0
A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia	0
Gillespie syndrome: Greek patient with novel mutation and atypical presentation. Expansion of the phenotype and literature review	0
Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family	0
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature	0
Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect	0
Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C&gt;T p.Arg57* Variant in <i>CEP19</i> Gene	0
A TMEM260 biallelic deletion underlies truncus arteriosus	0
Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome	0
Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome	0
Evaluation of Cytogenetic and Molecular Genetic Tests in Patients with Short Stature	0
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Prg4 Gene: Case Series and Literature Review	0
X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features	0
A Systematic Bioinformatic Analysis of the miRNA Pathway in Inborn Errors of Amino Acid Metabolism Disorders	0
PACS2, PACS1, and VACTERL: A Clinical Overlap	0
Report of a Novel Homozygous Intragenic <i>DCC</i> Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with	0
A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G&gt;A (p.Arg266Gln) Pathogenic Variant in the <i>TP63</i> Gene	0
Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia	0
Erratum	0
Front & Back Matter	0
A Case of Lateral Meningocele Syndrome without Lateral Meningoceles	0
Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia	0
Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence	0
PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report	0
Abnormal PAR1/2 Number Can Influence Effector T Cell Subsets in Turner Syndrome	0
A Rare Cause of Thyroid Hormone Abnormalities in an Adolescent: A Case of SBP2 (SECISBP2) Deficiency	0
Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report	0
Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review	0
Esophageal Atresia, an Anomaly of VACTERL Association or Novel Feature of the FGF10 Gene: A Case Report	0
SDHA Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven	0
De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome	0
Maternally Inherited Atypical 22q11.2 Microduplication Presenting with Unilateral Microtia and Aural Atresia: A Case Report of Evidence for an Association with Severe Ear Malformations	0
A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly	0
Front & Back Matter	0
Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels	0
Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature	0
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature	0
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33	0
Identification of miRNAs Associated with Infantile-Onset Pompe Disease	0
EpiSignature utility for variant of uncertain significance reclassification in an apparently atypical presentation of HNRNPU-related neurodevelopmental disorder: A case report	0
Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the AHI1 Gene	0
First Reported Co-Occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review	0
The Expanding Phenotypic Spectrum of <b><i>NUP188</i></b> Variants Points Toward Multiple Biological Pathways	0
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7	0
Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum	0
Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome	0
Detecting a Novel <i>NOTCH3</i> Variant in Patients with Suspected CADASIL: A Single Center Study	0
Genetic Syndromes Including Intellectual Disability and Different Cancer Types	0
A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	0
Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case	0
Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance	0
Different Clinic, Different Diagnosis: Tyrosinemia Type 3	0
A Treatable Cause of Seizures and Hyperphosphatasia: Patients with PGAP2 and PGAP3 Mutations	0
Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in one of three patients of USP9X variant-associated Autism Spectrum Disorder	0
Association of <i>ABCA13</i> Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders	0
CLINICAL CHARACTERIZATION AND CYTOGENETIC-MOLECULAR STUDY OF A PATIENT WITH A RING CHROMOSOME 12	0
Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families	0
Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study	0
Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family	0
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile	0
Erratum	0
Long-Term Renal Transplant Success Is Possible in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome: A Case Report	0
Clinical and Genetic Spectrum of RYR1-Related Disease	0
A Deeper Insight into <i>COL4A3</i>, <i>COL4A4</i>, and <i>COL4A5 </i>Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome	0
Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T&gt;G Variant	0
Delineating the Disease Boundaries: Homozygous <i>CDC14A</i> Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome	0
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing	0
Genetic Analysis Strategy for Diagnosing Congenital Heart Disease	0
Identification of a Novel de novo Splicing Mutation in Duchenne Muscular Dystrophy Gene in an Iranian Family	0
A Novel Homozygous <i>ACBD5</i> Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature	0
Management of Neonatal Severe Hyperparathyroidism Due to Homozygous CASR Mutation: Challenges and Literature Insights	0
First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations	0
A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression	0
Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome	0