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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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Bibliografski detalji
Izdano u:Case Rep Med
Glavni autori: Uribe-Bojanini, Esteban, Hernandez-Quiceno, Sara, Cock-Rada, Alicia María
Format: Artigo
Jezik:Inglês
Izdano: Hindawi Publishing Corporation 2017
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5309409/
https://ncbi.nlm.nih.gov/pubmed/28255305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/7162737
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