Xeroderma Pigmentosum: Ocular Findings in an Isolated Brazilian Group with an Identified Genetic Cluster

PURPOSE: Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by increased susceptibility to UV radiation- (UVR-) induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Eight different genes ar...

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Detalles Bibliográficos
Autores principales: Schelini, Maria Claudia, Chaves, Luis Fernando O. B., Toledo, Marcia C., Rodrigues, Francisco W., de Oliveira, Tauan, Isaac, David L. C., Avila, Marcos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875256/
https://www.ncbi.nlm.nih.gov/pubmed/31781376
http://dx.doi.org/10.1155/2019/4818162

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