Article
MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.
Hamostaseologie - 1 Feb 2019
Zaninetti Carlo, De Rocco Daniela, Giangregorio Tania, Bozzi Valeria, Demeter Judit, Leoni Pietro, Noris Patrizia, Ryhänen Samppa, Barozzi Serena, Pecci Alessandro, Savoia Anna
Abstract excerpt
MYH9-related disease (MYH9-RD) is an autosomal-dominant thrombocytopenia caused by mutations in the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA). Patients present congenital macrothrombocytopenia and inclusions of NMMHC-IIA in leukocytes, and have a variable risk of developing kidney damage, sensorineural deafness, presenile cataracts and/or liver enzymes abnormalities. The spectrum of mutations found...
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