Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1‐associated Noonan syndrome: Expanding the phenotype and review of the literature

Abstract Background Noonan syndrome is an autosomal dominant disorder secondary to RASopathies, which are caused by germ‐line mutations in genes encoding components of the RAS mitogen‐activated protein kinase pathway. RIT1 (OMIM *609591) was recently reported as a disease gene for Noonan syndrome. M...

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Bibliographic Details
Main Authors: Safwat A. Aly, Kenneth M. Boyer, Brie‐Ann A. Muller, Davide Marini, Carolyn H. Jones, Hoang H. Nguyen
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1253