The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) has been reported twice in individuals with a clinical diagnosis of Fraser syndrome, a genetic disorder that can be caused by recessive mutations affecting FREM2 and FRAS1. In the extracellular matrix, FREM2 and FRAS1 form a self-stabilizing complex with FREM1,...

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Publicado no:Hum Mol Genet
Main Authors: Jordan, Valerie K, Beck, Tyler F, Hernandez-Garcia, Andres, Kundert, Peter N, Kim, Bum-Jun, Jhangiani, Shalini N, Gambin, Tomasz, Starkovich, Molly, Punetha, Jaya, Paine, Ingrid S, Posey, Jennifer E, Li, Alexander H, Muzny, Donna, Hsu, Chih-Wei, Lashua, Amber J, Sun, Xin, Fernandes, Caraciolo J, Dickinson, Mary E, Lally, Kevin P, Gibbs, Richard A, Boerwinkle, Eric, Lupski, James R, Scott, Daryl A
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5985720/
https://ncbi.nlm.nih.gov/pubmed/29618029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy110
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