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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.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A. Seri M, et al. Among authors: bizzaro n. Medicine (Baltimore). 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. Medicine (Baltimore). 2003. PMID: 12792306 Free article.
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
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. Seri M, et al. Among authors: bizzaro n. Nat Genet. 2000 Sep;26(1):103-5. doi: 10.1038/79063. Nat Genet. 2000. PMID: 10973259
MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivation.
Toren A, Rozenfeld-Granot G, Heath KE, Amariglio N, Rocca B, Crosson J, Epstein CJ, Laghi F, Landolfi R, Carlsson LE, Argraves S, Bizzaro N, Moxey-Mims M, Brok-Simoni F, Martignetti JA, Greinacher A, Rechavi G. Toren A, et al. Among authors: bizzaro n. Am J Hematol. 2003 Dec;74(4):254-62. doi: 10.1002/ajh.10425. Am J Hematol. 2003. PMID: 14635206 Free article.
241 results