TY - JOUR AU - Hamamy, Hanan AU - Makrythanasis, Periklis AU - Al-Allawi, Nasir AU - Muhsin, Abdulrahman A. AU - Antonarakis, Stylianos E. PY - 2014 DA - 2014/12/17 TI - Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report JO - BMC Medical Genetics SP - 135 VL - 15 IS - 1 AB - 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. SN - 1471-2350 UR - https://doi.org/10.1186/s12881-014-0135-0 DO - 10.1186/s12881-014-0135-0 ID - Hamamy2014 ER -