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Germline gain-of-function mutations in SOS1 cause Noonan syndrome

✍ Scribed by Roberts, Amy E; Araki, Toshiyuki; Swanson, Kenneth D; Montgomery, Kate T; Schiripo, Taryn A; Joshi, Victoria A; Li, Li; Yassin, Yosuf; Tamburino, Alex M; Neel, Benjamin G

Book ID: 109919473
Publisher: Nature Publishing Group
Year: 2006
Tongue: English
Weight: 407 KB
Volume: 39
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1926

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Noonan and LEOPARD syndromes are developmental disorders with overlapping features, including cardiac abnormalities, short stature and facial dysmorphia. Increased RAS signaling owing to PTPN11, SOS1 and KRAS mutations causes B60% of Noonan syndrome cases , and PTPN11 mutations cause 90% of LEOPARD

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