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LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy

✍ Scribed by Carcavilla, Atilano; Santomé, José L.; Pinto, Isabel; Sánchez-Pozo, Jaime; Guillén-Navarro, Encarna; Martín-Frías, María; Lapunzina, Pablo; Ezquieta, Begoña

Book ID
123335269
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
202 KB
Volume
66
Category
Article
ISSN
1885-5857

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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
✍ Pandit, Bhaswati; Sarkozy, Anna; Pennacchio, Len A; Carta, Claudio; Oishi, Kimih 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 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