Molecular Syndromology

Article	Citations
Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report	22
Novel Pathogenic Variant (c.1171A&#x3e;T) in <b><i>PHF21A</i></b> in a Female with Intellectual Disability and Craniofacial Anomalies	12
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	10
Acknowledgement to Reviewers	9
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the <b><i>ARID1B</i></b> Gene in a Girl with Coffin-Siris Syndrome	9
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report	9
Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals	8
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion	8
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C	6
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency	6
A novel GATAD2B frameshift variant causes GATAD2B-associated neurodevelopmental disorder with camptodactyly	5
Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability	5
D-bifunctional protein deficiency type III: Two Turkish cases and a novel HSD17B4 gene variant	5
First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature	5
Expanding the Phenotypic Spectrum of <b><i>HIVEP2</i></b>-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature	5
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia	5
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability	5
A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7	5
Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?	4
Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing	4
A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits	4
Identification of the genetic causes of inherited diseases in a North African biobank: implications for genetic diagnosis	4
Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship	4
Genotype-phenotype analysis and new clinical findings in a series of 24 patients presenting with Noonan syndrome and related disorders	4
Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation	4

Hydrocephalus and Growth Retardation: A Fetal RNU4ATAC-opathy Missed by Whole-Exome Sequencing	4
A Novel De Novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism	4
Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant	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
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome	4
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with <i>GSX2</i> and <i>PCDH12</i> Variants	4
A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum	4
A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis	4
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child	4
Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel <b><i>GPD1</i></b> Mutation	4
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis	3
A Homozygous Missense Variant in <i>HSD17B4</i> Identified in Two Different Families	3
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel	3
Novel Mutation in the <i>HSD17B10</i> Gene Accompanied by Dysmorphic Findings in Female Patients	3
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH	3
Genetics of Mitochondrial Aminoacyl-tRNA Synthetases Associated with Sensorineural Hearing Loss	3
New Report of a Different Clinical Presentation of <b><i>CD151</i></b> Splicing Mutation (c.351+2T&#x3e;C): Could <b><i>TSPAN11</i></b> be Considere	3
The Opportunities and Challenges in the Molecular Mechanism Research of Congenital Heart Disease: A Review	3
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly	3
Investigation of Genetic Changes in Three Families with Bipolar Disease	3
The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant	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	3
A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism	3
A Patient with a Novel <b><i>RARS2</i></b> Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature	3
A Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency	3
C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis	3
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene	3
Front & Back Matter	3
Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation	3
A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability	3
Pre- and Postnatal Characterization of Autosomal Recessive <b><i>KIDINS220</i></b>-Associated Ventriculomegaly	3
Erratum	3
Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy	3
Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO Gene	3
Genetic Landscape of <b><i>SCN1A</i></b> Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome	3
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature	3
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy	3
A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy	3
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features	3
Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia	3
A Novel KMT5B Frameshift Variant Presenting with Autism and Psychiatric Features: Intra-Familial Phenotypic Variation – A Case Report	3
Comparative Small RNA Sequencing Reveals Candidate Functional miRNAs in Nonketotic Hyperglycinemia	3
A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation	2
Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome	2
First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations	2
A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3	2
Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant	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
Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing	2
Meckel–Gruber syndrome due to homozygous c.16del (p.Leu6SerfsTer15) variant in the TCTN1: first case from Türkiye	2

Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders	2
Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the <i>EZH2</i> Gene	2
Front & Back Matter	2
Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels	2
Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye	2
Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society	2
A Novel Compound Heterozygous CYP27A1 Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family	2
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation	2
Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases	2
Deep White Matter Cysts in a Patient with Aicardi-Goutières Syndrome and <b><i>SAMHD1</i></b> Variants	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
Delineation of a Phenotype Caused by a <b><i>KAT6B</i></b> Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes	2
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency	2
Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder	2
A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda	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
Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11	2
Front & Back Matter	2
A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature	1
High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene	1
Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient	1
A new family with X-linked intellectual disability-90: A case report of a novel DLG3 variant and literature review	1
Pamidronate Treatment of a patient with Opsismodysplasia and a novel INPPL1 variant – Efficacy, Mechanism and Clinical Outcomes	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 Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review	1
Clinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score	1
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review	1
A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the <i>CSNK2A1</i> Gene in a Turkish Patient	1
Erratum	1
Front & Back Matter	1
A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family	1
Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts	1
A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating <i>UVSSA </i>Variant: Might This Be a New Cause?	1
A Novel <i>ZBTB20</i> Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features	1
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <b><i>ASPM</i></b> and <b><i>WDR62</i></b> Genes	1
A novel X-linked variant c.1772delG (p.G591fs*20) in IRS4 in two related patients with central hypothyroidism	1
<i>TPP1</i> Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2	1
Exome Sequencing Identifies a Novel <b><i>SIN3A</i></b> Variant in a Patient with Witteveen-Kolk Syndrome	1
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19	1
Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review	1
Ocular Manifestations of Hurler-Scheie Syndrome: Recurrence of Host Disease in the Corneal Transplant	1
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review	1
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes	1
A New Case with Weaver Syndrome: Delineating Natural Course and Growth Pattern, Further Clarifying Clinical Phenotype	1
Homozygous Intragenic Deletion in <i>WDR62</i> in Siblings with Primary Microcephaly	1
A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review	1
A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy	1
Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of <b><i>EYA3/EFCAB4b</i></b>	1
A Rare Presentation of Homozygous Pathogenic Variant in <i>MC2R</i> Gene with Salt-Wasting Crisis in a Neonate	1
Front & Back Matter	1
Expanded Phenotypic Spectrum or Multiple Syndromes?	1
Front & Back Matter	1
Leigh Syndrome due to <i>MT-ATP6</i> Variants: A Case Presentation and the Review of the Literature	1
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development	1
Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene	1
HIRA, NKX2-5 and GATA4 alterations versus cardiac malformations related to 22q11.2 deletion syndrome.	1
Front & Back Matter	1
Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report	1
A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene	1
CRTAP-Related Osteogenesis Imperfecta: Clinical Variability and a Potential Founder Variant in CRTAP	1
Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy	1
Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report	1
Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases	1
Erratum	1
Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype	1
Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months	1
22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders	1
Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant	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
Cobalamin J disorder in a teenage boy with recurrent abdominal pain attacks: A case report and literature review	1
Coexistence of Rare Genetic Disorders in a Consanguineous Family: Case Study of KLHL24-Related Hypertrophic Cardiomyopathy and Char Syndrome	1
Acknowledgement to Reviewers	1
A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly	1
Shifting the Focus of Molecular Syndromology from Individual Diagnoses to Outcome Analyses	1
Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review	1
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?	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
Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement	1
A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus	1

Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the AHI1 Gene	0
A New Family with a Novel <b><i>OTUD6B</i></b> Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot	0
Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome	0
Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability	0
Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in <b><i>TRAPPC9</i></b> Gene and Literature Review	0
Gene Mutations in Cushing’s Syndrome	0
A Long-Term Follow-Up of a Patient with a Novel <i>PORCN</i> Variant and Additional Clinical Features	0
<i>COL12A1</i> Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy	0
Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome	0
A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency	0
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature	0
A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	0
De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome	0
EpiSignature utility for variant of uncertain significance reclassification in an apparently atypical presentation of HNRNPU-related neurodevelopmental disorder: A case report	0
A novel HECW2 variant (c.4354G>A; p. Gly1452Ser) in Chinese patient with developmental delay, neurodevelopmental delay and hypotonia	0
Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum	0
First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations	0
Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review	0
Acknowledgement to Reviewers	0
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature	0
Front & Back Matter	0
Detecting a Novel <i>NOTCH3</i> Variant in Patients with Suspected CADASIL: A Single Center Study	0
A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature	0
Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior	0
Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1	0
Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: Report of Two Cases and Literature Review	0
CLINICAL CHARACTERIZATION AND CYTOGENETIC-MOLECULAR STUDY OF A PATIENT WITH A RING CHROMOSOME 12	0
Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case	0
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33	0
A Colombian Boy with a Novel de novo PURA Variant: A Case Report	0
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Prg4 Gene: Case Series and Literature Review	0
Co-Occurring Atypical Galactosemia and Wilson Disease	0
First Reported Co-Occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review	0
Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series	0
Genetic Analysis Strategy for Diagnosing Congenital Heart Disease	0
Front & Back Matter	0
Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study	0
Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels	0
Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome	0
Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic <b><i>KRAS</i></b> Variation	0
Genetic Syndromes Including Intellectual Disability and Different Cancer Types	0
Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!	0
Association of MicroRNA-146a-5p Polymorphism with Cognitive Impairment in Adolescents with Depressive Disorder	0
EEF2-Related Neurodevelopmental Disorder Is Clinically Recognizable	0
Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia	0
Identification of a Novel de novo Splicing Mutation in Duchenne Muscular Dystrophy Gene in an Iranian Family	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 Genetics Study in the Foreskin of Boys with Hypospadias	0
A Novel Homozygous <i>ACBD5</i> Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature	0
5-Oxoprolinase deficiency and epilepsy: report of four cases with new clinical findings and clinical diversity even in the same family	0
The Expanding Phenotypic Spectrum of <b><i>NUP188</i></b> Variants Points Toward Multiple Biological Pathways	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
Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in one of three patients of USP9X variant-associated Autism Spectrum Disorder	0
Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient	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
Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family	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
Association of <i>ABCA13</i> Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders	0
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome	0
Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia	0
Management of Neonatal Severe Hyperparathyroidism Due to Homozygous CASR Mutation: Challenges and Literature Insights	0
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile	0
A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly	0
SDHA Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven	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
COL7A1 Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus	0
Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants	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
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 DİSEASE	0
Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia	0
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)	0
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing	0
Recurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia	0
A Patient with Organic Acidemia, Hyperammonemia and a FBXL4 Variant Suggesting Mitochondrial DNA Depletion Syndrome	0
TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature	0
A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression	0
Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct	0
Xq21.1q21.31 Duplication in Two Male Siblings	0
WDR81 Mutation in Two Siblings: A Case Report and Review of Literature	0
A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder	0
A TMEM260 biallelic deletion underlies truncus arteriosus	0
Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature	0
Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease	0
Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect	0
Proteomic Analysis of m.8296A&#x3e;G Variation in the Mitochondrial <b><i>tRNA</i></b><sup>Lys</sup> Gene	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
Erratum	0
Left Ventricular Systolic Dysfunction Related to Adrenal Insufficiency in a Case due to Autoimmune Polyendocrine Syndrome Type 1 with a Novel Variant	0
PACS2, PACS1, and VACTERL: A Clinical Overlap	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
Different Clinic, Different Diagnosis: Tyrosinemia Type 3	0
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
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of <b><i>GALNS</i></b> with Resultant Morquio Syndrome with Two Successful Pregnancies	0
Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families	0