Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Fibromuscular dysplasia (FMD) is a heterogeneous group of non-atherosclerotic and non-inflammatory arterial diseases that primarily involves the renal and cerebrovascular arteries. Grange syndrome is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to...

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Publicado en:Am J Hum Genet
Main Authors: Guo, Dong-chuan, Duan, Xue-Yan, Regalado, Ellen S., Mellor-Crummey, Lauren, Kwartler, Callie S., Kim, Dong, Lieberman, Kenneth, de Vries, Bert B.A., Pfundt, Rolph, Schinzel, Albert, Kotzot, Dieter, Shen, Xuetong, Yang, Min-Lee, Bamshad, Michael J., Nickerson, Deborah A., Gornik, Heather L., Ganesh, Santhi K., Braverman, Alan C., Grange, Dorothy K., Milewicz, Dianna M.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5223026/
https://ncbi.nlm.nih.gov/pubmed/27939641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.11.008
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