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Article

[Hereditary sensorineural hearing impairment and macrothrombocytopenia: a rare MYH9 gene mutation].

HNO - 1 Feb 2013

Böttcher A, Knecht R, Busch C-J, Lörincz B B, Dalchow C V

Abstract excerpt

We report on a rare case of an exon 16 mutation of the MYH9 gene in a 23-year-old woman. This gene encodes for non-muscular myosin IIA, which acts as a cytoskeletal contractile protein in diverse cell types. This disorder led to sensorineural hearing loss, macrothrombocytopenia, and proteinuria. MYH9 gene mutation can lead to diverse organ manifestation like pre-senile cataract or renal failure which are...

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Share to MYH9 gene
Share to Genetic Predisposition to Disease
Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Motor Proteins

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Share to Myosin Heavy Chains

Share to Thrombocytopenia

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Source

Identifiers

PMID: 23223919
DOI: 10.1007/s00106-012-2521-2

Genes

MYH9

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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[Hereditary sensorineural hearing impairment and macrothrombocytopenia: a rare MYH9 gene mutation].PMID 23223919Read ↗

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