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Title

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report
Authors
Al Hamami, Hanan
Makrythanasis, Periklis
Al-Allawi, Nasir
Muhsin, Abdulrahman A
Antonarakis, Stylianos
Published in BMC medical genetics. 2014, vol. 15, 135
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
Identifiers
PMID: 25516138
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Article (Published version) (631 Kb) - public document Free access
Structures
Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement
Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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 https://archive-ouverte.unige.ch/unige:77288

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Deposited on : 2015-11-16

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