Case Reports in Genetics

The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy

A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice

Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes

Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)

Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA Mutation

Novel EPG5 Mutation Associated with Vici Syndrome Gene

De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome

Pitfalls in Genetic Testing for Consanguineous Pediatric Populations

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding

Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad

Case Reports in Genetics

Table of Contents

Table of Contents: 2022

The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy

A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice

Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes

Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)

Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA Mutation

Novel EPG5 Mutation Associated with Vici Syndrome Gene

De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome

Pitfalls in Genetic Testing for Consanguineous Pediatric Populations

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding

Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad