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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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Bibliographische Detailangaben
Veröffentlicht in:Case Rep Med
Hauptverfasser: Uribe-Bojanini, Esteban, Hernandez-Quiceno, Sara, Cock-Rada, Alicia María
Format: Artigo
Sprache:Inglês
Veröffentlicht: Hindawi Publishing Corporation 2017
Schlagworte:
Online Zugang: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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