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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

✍ Scribed by Pandit, Bhaswati; Sarkozy, Anna; Pennacchio, Len A; Carta, Claudio; Oishi, Kimihiko; Martinelli, Simone; Pogna, Edgar A; Schackwitz, Wendy; Ustaszewska, Anna; Landstrom, Andrew

Book ID: 109919593
Publisher: Nature Publishing Group
Year: 2007
Tongue: English
Weight: 224 KB
Volume: 39
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng2073

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## Abstract ## BACKGROUND Nonsyndromic hypertrophic cardiomyopathy (HCM) is a primary cardiac disease transmitted as an autosomal dominant trait. Multiple chromosomal loci have been found to be involved in the etiology of this defect. LEOPARD syndrome is a genetic condition characteristically asso