- A novel elastin gene mutation in a Vietnamese patient with cutis laxa.
A novel elastin gene mutation in a Vietnamese patient with cutis laxa.
Pediatric dermatology (2014-04-25)
Mark L Siefring, Elizabeth C Lawrence, Tom C Nguyen, Doanh Lu, Giang Pham, Christa Lorenchick, Kara L Levine, Zsolt Urban
PMID24758204
ABSTRACT
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.