Deletion of MAP2K2/MEK2: A novel mechanism for a RASopathy?

RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/MAPK pathway components. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy characterized by distinctive craniofacial features, skin and hair abnormalities, and congenital heart defects caused by activa...

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Publicado no:Clin Genet
Main Authors: Nowaczyk, Małgorzata J.M., Thompson, Brandi A., Zeesman, Susan, Moog, Ute, Sanchez-Lara, Pedro A., Magoulas, Pilar L., Falk, Rena E., Fong, Julie Hoover, Batista, Denise A.S., Amudhavalli, Shivarajan M., White, Sue M., Graham, Gail E., Rauen, Katherine A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4480871/
https://ncbi.nlm.nih.gov/pubmed/23379592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12116
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