MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.

doi:10.1097/01.md.0000076006.64510.5c

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MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.

Medicine - 1 May 2003

Seri Marco, Pecci Alessandro, Di Bari Filomena, Cusano Roberto, Savino Maria, Panza Emanuele, Nigro Alessandra, Noris Patrizia, Gangarossa Simone, Rocca Bianca, Gresele Paolo, Bizzaro Nicola, Malatesta Paola, Koivisto Pasi A, Longo Ilaria, Musso Roberto, Pecoraro Carmine, Iolascon Achille, Magrini Umberto, Rodriguez Soriano Juan, Renieri Alessandra, Ghiggeri Gian Marco, Ravazzolo Roberto, Balduini Carlo L, Savoia Anna

Abstract excerpt

May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are autosomal dominant macrothrombocytopenias distinguished by different combinations of clinical and laboratory signs, such as sensorineural hearing loss, cataract, nephritis, and polymorphonuclear Döhle-like bodies. Mutations in the MYH9 gene encoding for the nonmuscle myosin heavy chain IIA (NMMHC-IIA) have been identified in all...

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PMID: 12792306
DOI: 10.1097/01.md.0000076006.64510.5c

Genes

MYH9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.PMID 12792306Read ↗

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Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.Semantic proximity Read ↗

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Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.Semantic proximity Read ↗

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