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Article

Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease.

Acta haematologica - 1 Jan 2013

Sun Xiong-hua, Wang Zhao-yue, Yang Hai-yan, Cao Li-juan, Su Jian, Yu Zi-qiang, Bai Xia, Ruan Chang-geng

Abstract excerpt

MYH9-related disease (MYH9-RD) is an autosomal dominant disorder caused by mutations in the MYH9 gene. It is characterized by a triad of giant platelets, thrombocytopenia, and characteristic Döhle body-like granulocyte inclusions. In this study we report 10 unrelated patients with MYH9-RD in whom the following seven MYH9 gene mutations were found: W33R, p.Q1443_K1445dup, R702H, D1424N, E1841K, R1933X, and E1945X...

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Source

Identifiers

PMID: 23207509
DOI: 10.1159/000342123

Genes

MYH9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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