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

Abstract excerpt

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 some patients remaining without a definitive diagnosis. Exome Sequencing has made possible the identification of almost...

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