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Noonan syndrome associated congenital hypertrophic cardiomyopathy and the role of sarcomere gene mutations

✍ Scribed by V.A. Joshi; A.E. Roberts; R.S. Kucherlapati


Book ID
113861240
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
72 KB
Volume
24
Category
Article
ISSN
1058-9813

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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