MYH9 異常症 [DS:H00233]
巨大血小板性血小板減少症 [DS:H01740]

Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA

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

Nat Genet 26:103-5 (2000)
DOI:10.1038/79063

White JG, Mattson JC, Nichols WL, Luban NL, Greinacher A

A variant of the Sebastian platelet syndrome with unique neutrophil inclusions.

Platelets 13:121-7 (2002)
DOI:10.1080/09537100120112549