MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations. Issue 2 (12th December 2013) - Pecci, Alessandro
Abstract MYH9‐related disease (MYH9‐RD), the complex syndromic disorder deriving from mutations in MYH9, is characterized by a considerable variability in clinical evolution. This paper identifies significant genotype–phenotype correlations in the largest series of consecutive MYH9‐RD patients collected so far. These data allow us to predict the evolution of the disease associated to genotypes responsible for 85% of MYH9‐RD cases, providing an essential tool for patients' clinical management and genetic counseling and suggesting new mechanisms for molecular pathogenesis of the disease.