SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS-MAPK signaling and is genetically heterogeneous, which explains, in part, the marked clinical variability documented for this Mendelian trait. Recently, we and others...

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Detalhes bibliográficos
Main Authors: Lepri, Francesca, De Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J, Dentici, Maria L, Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Ines, Faienza, Maria F, Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita Cirillo, Ferrero, Giovanni B, Torrrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria C, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D, Tartaglia, Marco
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Subscription Services, Inc., A Wiley Company 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3118925/
https://ncbi.nlm.nih.gov/pubmed/21387466
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21492
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