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Article

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.

Human molecular genetics - 1 Nov 2005

Pecci Alessandro, Canobbio Ilaria, Balduini Alessandra, Stefanini Lucia, Cisterna Barbara, Marseglia Carmela, Noris Patrizia, Savoia Anna, Balduini Carlo L, Torti Mauro

Abstract excerpt

Mutations of MYH9, the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA), cause a complex clinical phenotype characterized by macrothrombocytopenia and granulocyte inclusion bodies, often associated with deafness, cataracts and/or glomerulonephritis. The pathogenetic mechanisms of these defects are either completely unknown or controversial. In particular, it is a matter of debate whether haploinsufficiency...

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Source

Identifiers

PMID: 16162639
DOI: 10.1093/hmg/ddi344

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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Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.PMID 16162639Read ↗

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MYH9-Related Platelet DisordersSemantic proximity Read ↗

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