Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome-Reference-Cited by-同舟云学术

Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome

Published:2013-07-29 Issue:9 Volume:161 Page:2305-2310
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Cecchi Alana¹,Ogawa Naomi¹,Martinez Hugo R.²,Carlson Alicia¹,Fan Yuxin³,Penny Daniel J.³,Guo Dong-chuan¹,Eisenberg Steven⁴,Safi Hazim⁴,Estrera Anthony⁴,Lewis Richard A.⁵,Meyers Deborah¹,Milewicz Dianna M.¹

Affiliation:

1. Department of Internal Medicine; Division of Medical Genetics; University of Texas Health Science Center at Houston; Texas

2. Department of Pediatric Cardiology; Texas Children's Hospital; Houston Texas

3. John Welsh Cardiovascular Diagnostic Laboratory; Baylor College of Medicine; Houston Texas

4. Department of Cardiothoracic and Vascular Surgery; University of Texas Health Science Center at Houston; Texas

5. Departments of Ophthalmology and Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36044/fullpdf

Reference21 articles.

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3. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome;Dagoneau;Am J Hum Genet,2004

4. Weill-Marchesani syndrome in three generations;Evereklioglu;Eye (Lond),1999

5. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance;Faivre;J Med Genet,2001

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