Article
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Human mutation - 1 Feb 2014
Pecci Alessandro, Klersy Catherine, Gresele Paolo, Lee Kieran J D, De Rocco Daniela, Bozzi Valeria, Russo Giovanna, Heller Paula G, Loffredo Giuseppe, Ballmaier Matthias, Fabris Fabrizio, Beggiato Eloise, Kahr Walter H A, Pujol-Moix Nuria, Platokouki Helen, Van Geet Christel, Noris Patrizia, Yerram Preethi, Hermans Cedric, Gerber Bernhard, Economou Marina, De Groot Marco, Zieger Barbara, De Candia Erica, Fraticelli Vincenzo, Kersseboom Rogier, Piccoli Giorgina B, Zimmermann Stefanie, Fierro Tiziana, Glembotsky Ana C, Vianello Fabrizio, Zaninetti Carlo, Nicchia Elena, Güthner Christiane, Baronci Carlo, Seri Marco, Knight Peter J, Balduini Carlo L, Savoia Anna
Abstract excerpt
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9-RD is characterized by a considerable variability in clinical evolution: patients present at birth with only thrombocytopenia, but some of them subsequently develop sensorineural deafness, cataract, and/or nephropathy often leading to end-stage renal disease...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.