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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Bibliografiset tiedot
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2012
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Article
Linkit: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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