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Article

Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: case report and review of the literature.

Clinical nephrology - 1 Sept 2013

Ishida Mami, Mori Yasukiyo, Ota Noriyoshi, Inaba Toru, Kunishima Shinji

Abstract excerpt

MYH9 disorders are autosomal dominant diseases characterized by giant platelets, thrombocytopenia, and granulocyte inclusion bodies. These diseases are caused by mutations in the MYH9 gene that encodes nonmuscle myosin heavy chain IIA. We describe the case of a 27-year-old male who presented with macrothrombocytopenia and leukocyte inclusion bodies. Chronic kidney disease, probably due to progressive...

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Source

Identifiers

PMID: 22541678
DOI: 10.5414/CN107237

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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