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Article

Clinical and molecular genetic analysis of a family with macrothrombocytopenia and early onset sensorineural hearing loss.

European journal of medical genetics - 1 Jan 2000

Mhatre Anand N, Janssens Sandra, Nardi Michael A, Li Yan, Lalwani Anil K

Abstract excerpt

A kindred with inherited macrothrombocytopenia (MTCP) and sensorineural hearing loss (SNHL) from Ghent, Belgium was identified. Currently, joint expression of MTCP and hearing loss are linked to mutations within MYH9 only. Thus, we tested the hypothesis that a mutation within MYH9 is responsible for the autosomal dominant inheritance of MTCP and hearing loss in the Ghent family. A mutation screen of MYH9 coding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19285578
DOI: 10.1016/j.ejmg.2009.02.010

Genes

MYH9
GJB2
GJB3
GJB6

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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