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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Bibliographic Details
Main Authors: Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada
Format: Article
Language:English
Published: Wiley 2017-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2017/7162737
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