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Extracellular Matrix Protein 1 Gene Mutation in Turkish Patients with Lipoid Proteinosis
BACKGROUND: Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by mucocutaneous lesions and hoarseness of voice that develop in early childhood. LP is caused by mutation in the extracellular matrix protein 1 (ECM1) gene, which is located on 1q21.2. AIMS: This study ai...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6862362/ https://www.ncbi.nlm.nih.gov/pubmed/31896839 http://dx.doi.org/10.4103/ijd.IJD_365_18 |