Article
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations.
European journal of medical genetics - 1 Jan 2013
De Rocco Daniela, Zieger Barbara, Platokouki Helen, Heller Paula G, Pastore Annalisa, Bottega Roberta, Noris Patrizia, Barozzi Serena, Glembotsky Ana C, Pergantou Helen, Balduini Carlo L, Savoia Anna, Pecci Alessandro
Abstract excerpt
MYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9-RD is characterized by congenital macrothrombocytopenia and typical inclusion bodies in neutrophils associated with a variable risk of developing sensorineural deafness, presenile cataract, and/or progressive nephropathy. The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.