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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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Detalles Bibliográficos
Autores principales:	Hamamy, Hanan, Makrythanasis, Periklis, Al-Allawi, Nasir, Muhsin, Abdulrahman A, Antonarakis, Stylianos E
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411870/ https://www.ncbi.nlm.nih.gov/pubmed/25516138 http://dx.doi.org/10.1186/s12881-014-0135-0

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