A Novel Elastin Gene Mutation in a Vietnamese Patient with Cutis Laxa. Issue 3 (May 2014)

• Record Type: Journal Article
• Authors: Siefring, Mark L.; Lawrence, Elizabeth C.; Nguyen, Tom C.; Lu, Doanh; Pham, Giang; Lorenchick, Christa; Levine, Kara L.; Urban, Zsolt
• Is Part Of: Pediatric dermatology. Volume 31:Issue 3(2014)
• Page Start: 347
• Page End: 349
• Publication Date: 2014-05
• Subjects: Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.12334
• Languages: English
• ISSNs: 0736-8046

Abstract

<abstract abstract-type="main" id="pde12334-abs-0001"> <title>Abstract</title> <p>We report a 3‐year‐old girl from Vietnam with severe congenital cutis laxa; no cardiovascular, pulmonary, neurologic, or visceral involvement; and no family history of cutis laxa. Mutational analysis of the elastin gene identified heterozygosity for a previously unreported de novo c.2184delT mutation in exon 30 not present in either parent.</p> </abstract>