A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

A number of autosomal dominantly inherited disorders, such as Marfan syndrome (MFS) and Loeys–Dietz syndrome (LDS), are associated with predisposition to thoracic aortic aneurysms and dissections (TAADs). In the majority of cases, mutations in genes encoding components of the transforming growth fac...

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Detalhes bibliográficos
Main Authors: Leutermann, Ruth, Sheikhzadeh, Sara, Brockstädt, Lars, Rybczynski, Meike, van Rahden, Vanessa, Kutsche, Kerstin, von Kodolitsch, Yskert, Rosenberger, Georg
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4060107/
https://ncbi.nlm.nih.gov/pubmed/24193348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.252
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