Case Reports in Genetics

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with Dementia

Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin

Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation

Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors

Corrigendum to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review”

Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka

Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith–Wiedemann Syndrome: A Case Report and Review of the Literature

A Novel Mutation of Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype

An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination

A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period

Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the Literature

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy

Case Reports in Genetics

Table of Contents

Table of Contents: 2020

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with Dementia

Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin

Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation

Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors

Corrigendum to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review”

Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka

Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith–Wiedemann Syndrome: A Case Report and Review of the Literature

A Novel Mutation of Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype

An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination

A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period

Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the Literature

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy