Article
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.
American journal of medical genetics. Part A - 1 Jun 2013
Meuwissen Marije E C, Lequin Maarten H, Bindels-de Heus Karen, Bruggenwirth Hennie T, Knapen Maarten F C M, Dalinghaus Michiel, de Coo René, van Bever Yolande, Winkelman Beerend H J, Mancini Grazia M S
Abstract excerpt
Thoracic aortic aneurysm and dissection (TAAD) are associated with connective tissue disorders like Marfan syndrome and Loeys-Dietz syndrome, caused by mutations in the fibrillin-1, the TGFβ-receptor 1- and -2 genes, the SMAD3 and TGFβ2 genes, but have also been ascribed to ACTA2 gene mutations in adults, spread throughout the gene. We report on a novel de novo c.535C>T in exon 6 leading to p.R179C aminoacid...
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