Case Reports in Genetics

Table of Contents: 2019

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 6148425
  • - Case Report

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

M. C. J. Dekker | A. M. Sadiq | ... | B. C. Hamel
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 9382640
  • - Case Report

Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

T. M. Morgan | J. M. Colazo | ... | K. M. Joos
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 7250838
  • - Case Report

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

Cristian Petter | Lilia Maria Azevedo Moreira | Mariluce Riegel
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 1398250
  • - Case Report

Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case

A. H. Sabir | G. Ryan | ... | T. Cole
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 4361630
  • - Corrigendum

Corrigendum to “Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features”

Jacquelyn D. Riley | Catherine M. Stefaniuk | ... | Caroline Astbury
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 2687595
  • - Case Report

Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes

D. Hettiarachchi | B. A. P. S. Pathirana | ... | V. H. W. Dissanayake
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 3802613
  • - Case Report

Case of Inherited Partial AZFa Deletion without Impact on Male Fertility

Baiba Alksere | Dace Berzina | ... | Juris Erenpreiss
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 4218514
  • - Case Report

Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome

Manickavasagam Senthilraja | Aaron Chapla | ... | Nihal Thomas
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 2403024
  • - Case Report

Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation

Nivedita U. Jerath
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 5150725
  • - Case Report

Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient

Nedal Bukhari | Faisal Azam | ... | Mohammed Zahrani
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 9650184
  • - Case Series

Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

Gustav Askaner | Ulrikke Lei | ... | Karin Wadt
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 5384295
  • - Case Report

Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features

Jacquelyn D. Riley | Catherine M. Stefaniuk | ... | Caroline Astbury
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 2836263
  • - Case Report

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

Nathan R. Lindquist | Eric N. Appelbaum | ... | Isabelle Schrauwen
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 5647940
  • - Case Report

Increasing Evidence for the Association of Breast Implant-Associated Anaplastic Large Cell Lymphoma and Li Fraumeni Syndrome

Julian Adlard | Cathy Burton | Philip Turton
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2019
  • - Article ID 3108093
  • - Case Series

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder

Inusha Panigrahi | Manoj Dhanorkar | ... | Jasvinder Kalra
Case Reports in Genetics
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