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Article

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy

8 Mar 2017

Abstract excerpt

Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder and a member of a family of developmental disorders termed “RASopathies,” which are caused mainly by gain-of-function mutations in genes encoding RAS/MAPK signaling pathway proteins. Whole exome sequencing (WES) and trio-based genomic triangulation of a 15-year-old female with a clinical diagnosis of NS and concomitant cardiac hypertrophy and her...

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PMID: 28289718
DOI: 10.1172/jci.insight.91225

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