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A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma

โœ Scribed by Rob Hastings; Ruth Newbury-Ecob; Antony Ng; Rohan Taylor


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
37 KB
Volume
49
Category
Article
ISSN
1045-2257

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## Abstract Noonan syndrome is a genetic condition characterized by congenital heart defects, short stature, and characteristic facial features. Familial or de novo mutations in __PTPN11__, __RAF1__, __SOS1__, __KRAS__, and __NRAS__ are responsible for 60โ€“75% of the cases, thus, additional genes ar