Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back

The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD...

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Detalhes bibliográficos
Main Authors: Rauen, Katherine A., Schoyer, Lisa, McCormick, Frank, Lin, Angela E., Allanson, Judith E., Stevenson, David A., Gripp, Karen W., Neri, Giovanni, Carey, John C., Legius, Eric, Tartaglia, Marco, Schubbert, Suzanne, Roberts, Amy E., Gelb, Bruce D., Shannon, Kevin, Gutmann, David H., McMahon, Martin, Guerra, Carmen, Fagin, James A., Yu, Benjamin, Aoki, Yoko, Neel, Ben G., Balmain, Allan, Drake, Richard R., Nolan, Garry P., Zenker, Martin, Bollag, Gideon, Sebolt-Leopold, Judith, Gibbs, Jackson B., Silva, Alcino J., Patton, E. Elizabeth, Viskochil, David H., Kieran, Mark W., Korf, Bruce R., Hagerman, Randi J., Packer, Roger J., Melese, Teri
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4051786/
https://ncbi.nlm.nih.gov/pubmed/20014119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33183
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