Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome-Reference-Cited by-同舟云学术

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome

Published:2013-02-07 Issue:3 Volume:161 Page:527-533
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Delio Maria,Pope Kathleen,Wang Tao,Samanich Joy,Haldeman-Englert Chad R.,Kaplan Paige,Shaikh Tamim H.,Cai Jinlu,Marion Robert W.,Morrow Bernice E.,Babcock Melanie

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Pathologic and molecular analysis in a family with rare mixed supravalvar aortic and pulmonic stenosis;Arrington;Pediatr Dev Pathol,2006

2. Elastin mutation and cardiac disease;Chowdhury;Pediatr Cardiol,1999

3. Williams syndrome without cardiovascular abnormalities;Cincinnati;Minerva Pediatr,1998

4. Uncovering the roles of rare variants in common disease through whole-genome sequencing;Cirulli;Nat Rev Genet,2010

5. Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome;Collins;J Pediatr,2010

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. APOE–NOTCH axis governs elastogenesis during human cardiac valve remodeling;Nature Cardiovascular Research;2024-07-24

2. Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome;Journal of the American Heart Association;2024-04-16

3. Elastin;Biochemistry of Collagens, Laminins and Elastin;2024

4. Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21‐year‐old female with an intronic mutation in the elastin gene;American Journal of Medical Genetics Part A;2022-12-21

5. Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis;Frontiers in Genetics;2022-11-28