A restricted spectrum of NRAS mutations causes Noonan syndrome

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 stimul...

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Main Authors: Cirstea, Ion C, Kutsche, Kerstin, Dvorsky, Radovan, Gremer, Lothar, Carta, Claudio, Horn, Denise, Roberts, Amy E, Lepri, Francesca, Merbitz-Zahradnik, Torsten, König, Rainer, Kratz, Christian P, Pantaleoni, Francesca, Dentici, Maria L, Joshi, Victoria A, Kucherlapati, Raju S, Mazzanti, Laura, Mundlos, Stefan, Patton, Michael A, Silengo, Margherita Cirillo, Rossi, Cesare, Zampino, Giuseppe, Digilio, Cristina, Stuppia, Liborio, Seemanova, Eva, Pennacchio, Len A, Gelb, Bruce D, Dallapiccola, Bruno, Wittinghofer, Alfred, Ahmadian, Mohammad R, Tartaglia, Marco, Zenker, Martin
格式: Artigo
語言:Inglês
出版: 2009
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3118669/
https://ncbi.nlm.nih.gov/pubmed/19966803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.497
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