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Title: A restricted spectrum of NRAS mutations causes Noonan syndrome.
Authors: Cirstea IC,  Kutsche K,  Dvorsky R,  Gremer L,  Carta C,  Horn D,  Roberts AE,  Lepri F,  Merbitz-Zahradnik T,  König R,  Kratz CP,  Pantaleoni F,  Dentici ML,  Joshi VA,  Kucherlapati RS,  Mazzanti L,  Mundlos S,  Patton MA,  Silengo MC,  Rossi C,  Zampino G,  Digilio C,  Stuppia L,  Seemanova E,  Pennacchio LA,  Gelb BD,  Dallapiccola B,  Wittinghofer A,  Ahmadian MR,  Tartaglia M,  Zenker M
Journal: Nat Genet
Date: 2010 Jan
Branches: CGB
PubMed ID: 19966803
PMC ID: PMC3118669
Abstract: Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we report that germline NRAS mutations conferring enhanced stimulus-dependent MAPK activation account for some cases of this disorder. These findings provide evidence for an obligate dependency on proper NRAS function in human development and growth.