Article
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Human mutation - 1 Nov 2015
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
Abstract excerpt
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 commonest RASopathy, is genetically heterogeneous and caused by functional dysregulation of signal transducers and...
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