Article
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
American journal of human genetics - 1 Nov 2001
Heath K E, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson L E, Savige J, Denison J C, Gregory M C, White J G, Barker D F, Greinacher A, Epstein C J, Glucksman M J, Martignetti J A
Abstract excerpt
May-Hegglin anomaly (MHA) and Fechtner (FTNS) and Sebastian (SBS) syndromes are autosomal dominant platelet disorders that share macrothrombocytopenia and characteristic leukocyte inclusions. FTNS has the additional clinical features of nephritis, deafness, and cataracts. Previously, mutations in the nonmuscle myosin heavy chain 9 gene (MYH9), which encodes nonmuscle myosin heavy chain IIA (MYHIIA), were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.