Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

Aortic dilatation/dissection (AD) can occur spontaneously or in association with genetic syndromes, such as Marfan syndrome (MFS; caused by FBN1 mutations), MFS type 2 and Loeys–Dietz syndrome (associated with TGFBR1/TGFBR2 mutations), and Ehlers–Danlos syndrome (EDS) vascular type (caused by COL3A1...

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Autores principales: Meienberg, Janine, Rohrbach, Marianne, Neuenschwander, Stefan, Spanaus, Katharina, Giunta, Cecilia, Alonso, Sira, Arnold, Eliane, Henggeler, Caroline, Regenass, Stephan, Patrignani, Andrea, Azzarello-Burri, Silvia, Steiner, Bernhard, Nygren, Anders OH, Carrel, Thierry, Steinmann, Beat, Mátyás, Gábor
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2010
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3002852/
https://ncbi.nlm.nih.gov/pubmed/20648054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.105
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