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Article

Hereditary thrombocytopenia with familial novel mutation in MYH9 gene: A familial case report.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis - 1 Aug 2023

Ciftciler Rafiye, Balasar Özgur, Keyik Hilal, Ciftciler Ali Erdinc

Abstract excerpt

One of the rarest types of hereditary thrombocytopenia is the MYH9-related disorder. This spectrum of disorders is characterized by large platelets with or without leukocyte inclusion bodies, a decrease in the total number of platelets, and autosomal dominant inheritance. Proteinuric nephropathy that frequently progresses to end-stage renal failure, as well as the beginning of progressive high-frequency...

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PMID: 37076359
DOI: 10.1016/j.transci.2023.103710

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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