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

BACKGROUND: 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 som...

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書目詳細資料
發表在:BMC Med Genet
Main Authors: Hamamy, Hanan, Makrythanasis, Periklis, Al-Allawi, Nasir, Muhsin, Abdulrahman A, Antonarakis, Stylianos E
格式: Artigo
語言:Inglês
出版: BioMed Central 2014
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4411870/
https://ncbi.nlm.nih.gov/pubmed/25516138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0135-0
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