Article
Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature.
Molecular genetics & genomic medicine - 1 Jul 2020
Aly Safwat A, Boyer Kenneth M, Muller Brie-Ann A, Marini Davide, Jones Carolyn H, Nguyen Hoang H
Abstract excerpt
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. METHODS AND RESULTS: We present a patient with RIT1-associated Noonan syndrome, who in addition to the congenital heart...
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