Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome

The RASopathies constitute a family of autosomal dominant disorders whose major features include facial dysmorphism, cardiac defects, reduced postnatal growth, variable cognitive deficits, ectodermal and skeletal anomalies, and susceptibility to certain malignancies. Noonan syndrome (NS), the common...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Cordeddu, Viviana, Yin, Jiani C., Gunnarsson, Cecilia, Virtanen, Carl, Drunat, Séverine, Lepri, Francesca, De Luca, Alessandro, Rossi, Cesare, Ciolfi, Andrea, Pugh, Trevor J., Bruselles, Alessandro, Priest, James R., Pennacchio, Len A., Lu, Zhibin, Danesh, Arnavaz, Quevedo, Rene, Hamid, Alaa, Martinelli, Simone, Pantaleoni, Francesca, Gnazzo, Maria, Daniele, Paola, Lissewski, Christina, Bocchinfuso, Gianfranco, Stella, Lorenzo, Odent, Sylvie, Philip, Nicole, Faivre, Laurence, Vlckova, Marketa, Seemanova, Eva, Digilio, Cristina, Zenker, Martin, Zampino, Giuseppe, Verloes, Alain, Dallapiccola, Bruno, Roberts, Amy E., Cavé, Hélène, Gelb, Bruce D., Neel, Benjamin G., Tartaglia, Marco
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4604019/
https://ncbi.nlm.nih.gov/pubmed/26173643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22834
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