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

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

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