Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by muta...

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Autors principals: Neumann, Thomas E, Allanson, Judith, Kavamura, Ines, Kerr, Bronwyn, Neri, Giovanni, Noonan, Jacqueline, Cordeddu, Viviana, Gibson, Kate, Tzschach, Andreas, Krüger, Gabriele, Hoeltzenbein, Maria, Goecke, Timm O, Kehl, Hans Gerd, Albrecht, Beate, Luczak, Klaudiusz, Sasiadek, Maria M, Musante, Luciana, Laurie, Rohan, Peters, Hartmut, Tartaglia, Marco, Zenker, Martin, Kalscheuer, Vera
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2009
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986220/
https://ncbi.nlm.nih.gov/pubmed/18854871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.188
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