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Scientific article
Open access
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
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Article (Published version)
accessLevelPublic
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ISSN of the journal1471-2350
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