Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome

Author:

Quiñones-Pérez Bianca12ORCID,VanNoy Grace E.13,Towne Meghan C.13,Shen Yiping1,Singh Michael N.4,Agrawal Pankaj B.135,Smith Sharon E.1

Affiliation:

1. Division of Genetics and Genomics; Boston Children's Hospital; Boston Massachusetts

2. Division of General Pediatrics; Boston Children's Hospital; Boston Massachusetts

3. The Manton Center for Orphan Disease Research; Boston Children's Hospital; Boston Massachusetts

4. Department of Cardiology; Boston Children's Hospital; Boston Massachusetts

5. Division of Newborn Medicine; Boston Children's Hospital; Boston Massachusetts

Funder

National Human Genome Research Institute

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Wellcome Trust

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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