Article
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Nature genetics - 1 Sept 2000
Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri G M, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante L L, Savoia A, Balduini C L, Noris P, Magrini U, Belletti S, Heath K E, Babcock M, Glucksman M J, Aliprandis E, Bizzaro N, Desnick R J, Martignetti J A
Abstract excerpt
The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100), Fechtner syndrome (FTNS; MIM 153640) and Sebastian syndrome (SBS), share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions ('Döhle-like' bodies). MHA and SBS can be differentiated by subtle ultrastructural leukocyte inclusion features, whereas FTNS is distinguished by the additional...
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