Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations-Reference-Cited by-同舟云学术

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Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations

Published:2013-12-04 Issue:6 Volume:86 Page:552-557
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Pees C.¹²,Michel-Behnke I.¹²,Hagl M.¹³,Laccone F.¹³

Affiliation:

1. Pediatric Marfan Syndrome Outpatient Clinic; Medical University Vienna; Vienna Austria

2. Department of Pediatric Cardiology, Pediatric Heart Center Vienna; University Children's Hospital; Vienna Austria

3. Institute for Medical Genetics; Medical University Vienna; Vienna Austria

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. Marfan syndrome caused by recurrent de novo missense mutation in the fibrillin gene;Dietz;Nature,1991

2. TGF-β signaling in vascular biology and dysfunction;Goumans;Cell Res,2009

3. Marfan's syndrome and related disorders - More tightly connected than we thought;Gelb;N Engl J Med,2006

4. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2;Loeys;Nat Genet,2005

5. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease;Williams;Ann Thorac Surg,2007

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