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A Novel Elastin Gene Mutation in a Vietnamese Patient with Cutis Laxa
We report a 3-year-old girl from Vietnam with severe congenital cutis laxa, no cardiovascular, pulmonary, neurological or visceral involvement and no family history of cutis laxa. Mutational analysis of the elastin (ELN) gene identified heterozygosity for a previously unreported, de novo c.2184delT...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4108164/ https://ncbi.nlm.nih.gov/pubmed/24758204 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pde.12334 |
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