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A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature
Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations in ECM1. Nonsense and missense mutations are the most common variations in LP. Up to date, only 6 splice site mutations have been observed. We report on a 26-year-old female LP patient from a Turkish con...
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| Publicado no: | Mol Syndromol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4862396/ https://ncbi.nlm.nih.gov/pubmed/27194970 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000444615 |
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