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Article

Genotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder: Report of a Japanese Pedigree.

Journal of pediatric hematology/oncology - 1 Aug 2015

Okano Satomi, Takase Masashi, Iseki Kenichi, Toriumi Naohisa, Kaneda Makoto, Kunishima Shinji

Abstract excerpt

MYH9 disorder is a rare autosomal dominant disease characterized by congenital thrombocytopenia with giant platelets and leukocyte inclusion bodies and is often associated with Alport-like symptoms, such as glomerulonephritis, sensorineural hearing loss, and cataracts. We report a Japanese pedigree wherein the MYH9 p.R1165C mutation was present in over 4 generations. Three individuals were misdiagnosed as...

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Source

Identifiers

PMID: 26056797
DOI: 10.1097/MPH.0000000000000379

Genes

MYH9

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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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Genotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder: Report of a Japanese Pedigree.PMID 26056797Read ↗

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