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Darier disease: first molecular study of a Portuguese family
BACKGROUND: Darier disease (DD) is a rare autosomal dominant condition characterized by skin lesions. Additionally, a wide range of neuropsychiatric symptoms is frequently reported in DD patients. This genodermatosis relies on mutations in the ATPase sarcoplasmic/endoplasmic reticulum Ca(2+) transpo...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819764/ https://www.ncbi.nlm.nih.gov/pubmed/31687605 http://dx.doi.org/10.1016/j.heliyon.2019.e02520 |