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Article

A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review.

BMC medical genomics - 28 Mar 2026

Yan Xia, Li Zhenzhen, Huang Shaojun, Yang Xiaoxia, Chang Ming, Cheng Zhengjiang, Zhou Lan-Ting

Abstract excerpt

BACKGROUND: May-Hegglin anomaly, a rare autosomal dominant disorder caused by MYH9 mutations, is characterized by the classic "triad" of thrombocytopenia, giant platelets, and granulocyte cytoplasmic inclusion bodies; some patients also present non-hematological symptoms. RESULTS: We reported a family of MYH9-related disease. The proband had microscopic hematuria, proteinuria, and thrombocytopenia on physical...

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Source

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Identifiers

PMID: 41904450
DOI: 10.1186/s12920-026-02347-0
PMCID: PMC13151366

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review.PMID 41904450Read ↗

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