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Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation

✍ Scribed by Solveig Schulz; Rosemarie Fröber; Cornelia Kraus; Uwe Schneider

Book ID
112168530
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
313 KB
Volume
32
Category
Article
ISSN
0197-3851

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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 60–75% of the cases, thus, additional genes ar