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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Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Wiley Subscription Services, Inc., A Wiley Company 2011
Aiheet:
Research Article
Linkit: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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