Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth factor (TGF)-β signaling but is often caused by heterozygous mutations in genes encoding positive effectors of TGF-β signaling, including either subunit of the TGF-β receptor or SMAD3, thereby engendering cont...

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Main Authors: Lindsay, Mark E., Schepers, Dorien, Ajit Bolar, Nikhita, Doyle, Jefferson, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J.E., Fishman, Elliot K., Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdullah F., Levy, Howard P., Anderlid, Britt-Marie, Yang, Margaret H., Bongers, Ernie M.H.F., Timmermans, Janneke, Braverman, Alan C., Canham, Natalie, Mortier, Geert R., Brunner, Han G., Byers, Peter H., Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L.
Formato: Artigo
Idioma:Inglês
Publicado: 2012
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3616632/
https://ncbi.nlm.nih.gov/pubmed/22772368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2349
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