Case Reports in Genetics

Table of Contents

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 4142214
  • - Case Report

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

Hossein Esmaeilzadeh | Rafat Noeiaghdam | ... | Soheila Sadat Alyasin
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 5503505
  • - Case Report

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

Dinusha Pandithan | Sonja Klebe | ... | Nicola Poplawski
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 7138435
  • - Case Report

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

Jiyoung Kim | Angela Pipitone Dempsey | ... | Hilary J. Vernon
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 5021758
  • - Case Report

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

Kosei Hasegawa | Hiroyuki Tanaka | ... | Hirokazu Tsukahara
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 2766957
  • - Case Report

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

Zul Qarnain | Fatima Khan | ... | Salman Kirmani
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 9016497
  • - Case Report

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

Jordan H. Driskill | Helena Hwang | ... | Dwight Oliver
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 5452944
  • - Case Report

Novel EPG5 Mutation Associated with Vici Syndrome Gene

Frouzandeh Mahjoubi | Samira Shabani | ... | Aylar Khaligh Akhlaghi
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 4791082
  • - Case Report

De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome

Rafat Mosalli | Alfia Fatma | ... | Bosco Paes
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 9393042
  • - Case Report

Pitfalls in Genetic Testing for Consanguineous Pediatric Populations

Maha Saleh | Samantha Colaiacovo | ... | Chitra Prasad
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 3388879
  • - Case Report

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

Rhea Camille R. Yumul | Mary Anne D. Chiong
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 7510079
  • - Case Report

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

Julie Fischer | Luis Rohena
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 4153357
  • - Case Report

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

Shir Wey Gloria Pang | Hencher Han Chih Lee | ... | Joannie Hui
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 6341207
  • - Case Series

Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma

Hongyan Chai | Fang Xu | ... | Peining Li
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 6253690
  • - Case Report

Microdeletion of 4p16.2 in Children: A Case Report and Literature Review

Yanjie Qian | Xiaoying Wang | ... | Chaochun Zou
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2022
  • - Article ID 1183772
  • - Case Report

A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy

Hyelin You | David Sierpina
Case Reports in Genetics
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Article of the Year Award: Outstanding research contributions of 2021, as selected by our Chief Editors. Read the winning articles.