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Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum
BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal, recessive, inherited disease. XP patients exhibit high sensitivity to sunlight and increased incidence of skin cancer. The different XP subtypes, which are caused by mutations of eight distinct genes, show some specific clinical manifestati...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543889/ https://www.ncbi.nlm.nih.gov/pubmed/31178899 http://dx.doi.org/10.3389/fgene.2019.00495 |