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Article

MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivation.

American journal of hematology - 1 Dec 2003

Toren Amos, Rozenfeld-Granot Galit, Heath Karen E, Amariglio Ninette, Rocca Bianca, Crosson John, Epstein Charles J, Laghi Ferdinando, Landolfi Raffaele, Carlsson Lena E, Argraves Scott, Bizzaro Nicola, Moxey-Mims Marva, Brok-Simoni Frida, Martignetti John A, Greinacher Andreas, Rechavi Gideon

Abstract excerpt

The autosomal-dominant giant platelet syndromes (Fechtner, Epstein, and Sebastian platelet syndromes and May-Hegglin anomaly) represent a group of disorders characterized by variable degrees of macrothrombocytopenia with further combinations of neutrophil inclusion bodies and Alport-like syndrome manifestations, namely, deafness, renal disease, and eye abnormalities. The disease-causing gene of these giant...

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PMID: 14635206
DOI: 10.1002/ajh.10425

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MYH9

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