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

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

Research output: Contribution to journalArticle

16 Scopus citations
Original languageEnglish (US)
Pages (from-to)527-533
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number3
DOIs
StatePublished - Mar 1 2013

    Fingerprint

Keywords

  • Bicuspid valve aorta
  • DNA polymorphisms
  • Elastin
  • Supravalvular aortic stenosis
  • Williams-Beuren syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this