1.
Pediatr Dermatol
; 31(3): 347-9, 2014.
Artículo
en Inglés
| MEDLINE
| ID: mdl-24758204
RESUMEN
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.