Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins

Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have markedly increased risk for UV-induced skin, ocular, and oral c...

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Detalles Bibliográficos
Autores principales: Rabie, Eman, Amr, Khalda, Zada, Suher, El-Sayed, Heba, El Darouti, Mohamad, El-Kamah, Ghada
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7924063/
https://www.ncbi.nlm.nih.gov/pubmed/33672602
http://dx.doi.org/10.3390/genes12020295

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