<i>MYH9</i>-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations

Pecci, Alessandro; Klersy, Catherine; Gresele, Paolo; J.D. Lee, Kieran; De Rocco, Daniela; Bozzi, Valeria; Russo, Giovanna; G. Heller, Paula; Loffredo, Giuseppe; Ballmaier, Matthias; Fabris, Fabrizio; Beggiato, Eloise; H.A. Kahr, Walter; Pujol‐Moix, Núria; Platokouki, Helen; Van Geet, Chris; Noris, Patrizia; Yerram, Preethi; Hermans, Cédric; Gerber, B.; Economou, Marina; de Groot, Marco; Zieger, Barbara; De Candia, Erica; Fraticelli, Vincenzo; Kersseboom, Rogier; Barbara Piccoli, Giorgina; Zimmermann, Stefanie; Fierro, Tiziana; C. Glembotsky, Ana; Vianello, Fabrizio; Zaninetti, Carlo; Nicchia, Elena; Güthner, Christiane; Baronci, Carlo; Seri, Marco; J. Knight, Peter; L. Balduini, Carlo; Savoia, Anna

doi:10.1002/humu.22476

Public

MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations

Published in Human Mutation • Nov 4, 2013

Authors:

Alessandro Pecci

Catherine Klersy

Paolo Gresele

Abstract

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 ...

Subject

Penetrance

Biology

Genotype

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