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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

✍ Scribed by Tartaglia, Marco; Pennacchio, Len A; Zhao, Chen; Yadav, Kamlesh K; Fodale, Valentina; Sarkozy, Anna; Pandit, Bhaswati; Oishi, Kimihiko; Martinelli, Simone; Schackwitz, Wendy


Book ID
109919485
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
291 KB
Volume
39
Category
Article
ISSN
1061-4036

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Gain-of-function RAF1 mutations cause No
✍ Pandit, Bhaswati; Sarkozy, Anna; Pennacchio, Len A; Carta, Claudio; Oishi, Kimih πŸ“‚ Article πŸ“… 2007 πŸ› Nature Publishing Group 🌐 English βš– 224 KB

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