Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increase...

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Detalles Bibliográficos
Autores principales: Uribe-Bojanini, Esteban, Hernandez-Quiceno, Sara, Cock-Rada, Alicia María
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5309409/
https://www.ncbi.nlm.nih.gov/pubmed/28255305
http://dx.doi.org/10.1155/2017/7162737

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5309409/
https://www.ncbi.nlm.nih.gov/pubmed/28255305
http://dx.doi.org/10.1155/2017/7162737

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