טוען...
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...
שמור ב:
| הוצא לאור ב: | Case Rep Med |
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| Main Authors: | , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Hindawi Publishing Corporation
2017
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| נושאים: | |
| גישה מקוונת: | 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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