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
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)
Identifiers
- PID : unige:77288
- DOI : 10.1186/s12881-014-0135-0
- PMID : 25516138
ISSN of the journal1471-2350