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Article

Report of a young girl with MYH9 mutation and review of the literature.

Journal of pediatric hematology/oncology - 1 Oct 2012

Landi Daniel, Lockhart Evelyn, Miller Sara E, Datto Michael, Rehder Catherine, Kanaly Angela, Thornburg Courtney D

Abstract excerpt

MYH9 mutations cause the inherited macro-thrombocytopenic syndromes of May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively referred to as MYH9-related disease. We present the case of a girl with MYH9-related disease whose diagnosis was facilitated by pla...

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Source

Identifiers

PMID: 23007341
DOI: 10.1097/MPH.0b013e3182678fc9

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23007341-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.Semantic proximity Read ↗

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