Scientific article
OA Policy
English

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report

Published inBMC medical genetics, vol. 15, 135
Publication date2014
Abstract

Inherited thrombocytopenias (IT) are a heterogeneous group of rare diseases characterized by a reduced number of blood platelets. The frequency of IT is probably underestimated because of diagnostic difficulties and because not all the existing forms have as yet been identified, with some patients remaining without a definitive diagnosis. Exome Sequencing has made possible the identification of almost all variants in the coding regions of protein-coding genes, thereby providing the opportunity to identify the disease causing gene in a number of patients with indefinite diagnoses, specifically in consanguineous families.

Keywords
  • Adaptor Proteins, Signal Transducing/genetics
  • DNA Mutational Analysis
  • Exome
  • Female
  • Frameshift Mutation
  • Genes, Recessive
  • Humans
  • Infant
  • Iraq
  • Male
  • Pedigree
  • Thrombocytopenia/genetics
Citation (ISO format)
AL HAMAMI, Hanan et al. Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. In: BMC medical genetics, 2014, vol. 15, p. 135. doi: 10.1186/s12881-014-0135-0
Main files (1)
Article (Published version)
accessLevelPublic
Identifiers
Journal ISSN1471-2350
539views
191downloads

Technical informations

Creation13/11/2015 16:16:00
First validation13/11/2015 16:16:00
Update time14/03/2023 23:49:34
Status update14/03/2023 23:49:33
Last indexation31/10/2024 01:54:23
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack