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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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Библиографические подробности
Опубликовано в: :Case Rep Med
Главные авторы: Uribe-Bojanini, Esteban, Hernandez-Quiceno, Sara, Cock-Rada, Alicia María
Формат: Artigo
Язык:Inglês
Опубликовано: Hindawi Publishing Corporation 2017
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Online-ссылка: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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