Article
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
American journal of medical genetics. Part A - 1 Aug 2017
Hanchard Neil A, Umana Luis A, D'Alessandro Lisa, Azamian Mahshid, Poopola Mojisola, Morris Shaine A, Fernbach Susan, Lalani Seema R, Towbin Jeffrey A, Zender Gloria A, Fitzgerald-Butt Sara, Garg Vidu, Bowman Jessica, Zapata Gladys, Hernandez Patricia, Arrington Cammon B, Furthner Dieter, Prakash Siddharth K, Bowles Neil E, McBride Kim L, Belmont John W
Abstract excerpt
Congenital left-sided cardiac lesions (LSLs) are a significant contributor to the mortality and morbidity of congenital heart disease (CHD). Structural copy number variants (CNVs) have been implicated in LSL without extra-cardiac features; however, non-penetrance and variable expressivity have created uncertainty over the use of CNV analyses in such patients. High-density SNP microarray genotyping data were used...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.