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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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley Subscription Services, Inc., A Wiley Company 2011
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Research Article
Online Zugang: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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