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Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature

Xeroderma pigmentosum is a rare, autosomal recessive disease caused by a defect in DNA repair. Patients with xeroderma pigmentosum often have cutaneous and ocular sun sensitivity, freckle-like skin pigmentation, multiple skin and eye cancers, and, in some patients, progressive neurodegeneration. Xer...

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Dades bibliogràfiques
Autors principals: Ramkumar, Hema L., Brooks, Brian P., Cao, Xiaoguang, Tamura, Deborah, DiGiovanna, John J., Kraemer, Kenneth H., Chan, Chi-Chao
Format: Artigo
Idioma:Inglês
Publicat: 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3137889/
https://ncbi.nlm.nih.gov/pubmed/21684361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.survophthal.2011.03.001
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