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Article

Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

PloS one - 1 Jan 2012

Pecci Alessandro, Biino Ginevra, Fierro Tiziana, Bozzi Valeria, Mezzasoma Annamaria, Noris Patrizia, Ramenghi Ugo, Loffredo Giuseppe, Fabris Fabrizio, Momi Stefania, Magrini Umberto, Pirastu Mario, Savoia Anna, Balduini Carlo, Gresele Paolo

Abstract excerpt

BACKGROUND: MYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia associated with the risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract. During the collection of a large case-series of patients with MYH9-RD we noticed several cases with unexplained elevation of liver enzymes. Our aim was to evaluate if the...

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Source

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Identifiers

PMID: 22558294
DOI: 10.1371/journal.pone.0035986
PMCID: PMC3338476

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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