Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes

RAS-MAPK signaling mediates processes critical to normal development including cell proliferation, survival, and differentiation. Germline mutation of RAS-MAPK genes lead to the Noonan-spectrum of syndromes. Here, we present a patient affected by a 6p-interstitial microdeletion with unknown underlyi...

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Detalles Bibliográficos
Autores principales: Kent, Oliver A., Saha, Manipa, Coyaud, Etienne, Burston, Helen E., Law, Napoleon, Dadson, Keith, Chen, Sujun, Laurent, Estelle M., St-Germain, Jonathan, Sun, Ren X., Matsumoto, Yoshinori, Cowen, Justin, Montgomery-Song, Aaryn, Brown, Kevin R., Ishak, Charles, Rose, Jose La, De Carvalho, Daniel D., He, Housheng Hansen, Raught, Brian, Billia, Filio, Kannu, Peter, Rottapel, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7495420/
https://www.ncbi.nlm.nih.gov/pubmed/32938917
http://dx.doi.org/10.1038/s41467-020-18483-9

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