Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome

Cardiofaciocutaneous syndrome (CFC) and Noonan syndrome (NS) are two phenotypically overlapping genetic disorders whose underlying molecular etiologies affect a common signaling pathway. Mutations in the BRAF, MEK1 and MEK2 genes cause most cases of CFC and mutations in PTPN11, SOS1, KRAS and RAF1 t...

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Detalhes bibliográficos
Main Authors: Pierpont, Elizabeth I., Pierpont, Mary Ella, Mendelsohn, Nancy J., Roberts, Amy E., Tworog-Dube, Erica, Rauen, Katherine A., Seidenberg, Mark S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3085983/
https://ncbi.nlm.nih.gov/pubmed/20186801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33268
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