High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations-Reference-Cited by-同舟云学术

High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations

Published:2018-08-29 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Extramiana F.,Milleron O.,Elbitar S.^ORCID,Uccellini A.,Langeois M.,Spentchian M.,Delorme G.,Arnoult F.,Denjoy I.,Bouleti C.,Fressart V.,Iserin F.,Maison-Blanche P.,Abifadel M.,Leenhardt A.^ORCID,Boileau C.,Jondeau G.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-31298-5.pdf

Reference31 articles.

1. Collod, G. et al. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet. 8, 264–268 (1994).

2. Mizuguchi, T. et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 36, 855–860 (2004).

3. Inamoto, S. et al. TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections. Cardiovasc Res. 88, 520–529 (2010).

4. Loeys, B. L. et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFβR2. Nat Genet. 37, 27581 (2005).

5. Attias, D. et al. Comparison of clinical presentations and outcomes between patients with TGFβR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation. 120, 2541–2549 (2009).

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