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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Xehetasun bibliografikoak
Argitaratua izan da:Hum Mutat
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2015
Gaiak:
Article
Sarrera elektronikoa: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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