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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Publicat a:J Ophthalmol
Autors principals: Schelini, Maria Claudia, Chaves, Luis Fernando O. B., Toledo, Marcia C., Rodrigues, Francisco W., de Oliveira, Tauan, Isaac, David L. C., Avila, Marcos
Format: Artigo
Idioma:Inglês
Publicat: Hindawi 2019
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6875256/
https://ncbi.nlm.nih.gov/pubmed/31781376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/4818162
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