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Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-facio-cutaneous Syndrome

BACKGROUND: The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/MAPK pathway. Cardio-facio-cutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities...

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Detalhes bibliográficos
Main Authors: Siegel, D.H., McKenzie, J., Frieden, I.J., Rauen, K.A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4063552/
https://ncbi.nlm.nih.gov/pubmed/21062266
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1365-2133.2010.10122.x
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