New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome

BACKGROUND: Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MFS. However, the disease-causing effect of these variants may be questionable as...

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Detalles Bibliográficos
Autores principales: Yang, Ren-Qiang, Jabbari, Javad, Cheng, Xiao-Shu, Jabbari, Reza, Nielsen, Jonas B, Risgaard, Bjarke, Chen, Xu, Sajadieh, Ahmad, Haunsø, Stig, Svendsen, Jesper Hastrup, Olesen, Morten S, Tfelt-Hansen, Jacob
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4070351/
https://www.ncbi.nlm.nih.gov/pubmed/24941995
http://dx.doi.org/10.1186/1471-2156-15-74

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4070351/
https://www.ncbi.nlm.nih.gov/pubmed/24941995
http://dx.doi.org/10.1186/1471-2156-15-74

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