Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Aberrant signaling through pathways controlling cell response to extracellular stimuli constitutes a central theme in disorders affecting development. Signaling through RAS and the MAPK cascade controls a variety of cell decisions in response to cytokines, hormones, and growth factors, and its upreg...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Capri, Yline, Flex, Elisabetta, Krumbach, Oliver H.F., Carpentieri, Giovanna, Cecchetti, Serena, Lißewski, Christina, Rezaei Adariani, Soheila, Schanze, Denny, Brinkmann, Julia, Piard, Juliette, Pantaleoni, Francesca, Lepri, Francesca R., Goh, Elaine Suk-Ying, Chong, Karen, Stieglitz, Elliot, Meyer, Julia, Kuechler, Alma, Bramswig, Nuria C., Sacharow, Stephanie, Strullu, Marion, Vial, Yoann, Vignal, Cédric, Kensah, George, Cuturilo, Goran, Kazemein Jasemi, Neda S., Dvorsky, Radovan, Monaghan, Kristin G., Vincent, Lisa M., Cavé, Hélène, Verloes, Alain, Ahmadian, Mohammad R., Tartaglia, Marco, Zenker, Martin
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6562003/
https://ncbi.nlm.nih.gov/pubmed/31130282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.04.013
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