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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4108164 | PMC |
| http://dx.doi.org/10.1111/pde.12334 | DOI Listing |
Publication Analysis
Top Keywords
cutis laxa
12
elastin gene
8
novel elastin
4
gene mutation
4
mutation vietnamese
4
vietnamese patient
4
patient cutis
4
laxa report
4
report 3-year-old
4
3-year-old girl
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!