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Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.

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Title: Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.
Authors: Uribe-Bojanini E; Departamento de Dermatología, Universidad CES, Calle 10 A 22-04, Medellín, Colombia., Hernandez-Quiceno S; Departamento de Endocrinología Pediátrica, Universidad de Antioquia, Carrera 51D 62-29, Medellín, Colombia., Cock-Rada AM; Unidad de Genetica Médica, Facultad de Medicina, Universidad de Antioquia, Carrera 51D 62-29, Medellín, Colombia.
Source: Case reports in medicine [Case Rep Med] 2017; Vol. 2017, pp. 7162737. Date of Electronic Publication: 2017 Feb 01.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101512910 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1687-9627 (Print) NLM ISO Abbreviation: Case Rep Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Uribe-Bojanini+E%22">Uribe-Bojanini E</searchLink>; Departamento de Dermatología, Universidad CES, Calle 10 A 22-04, Medellín, Colombia.<br /><searchLink fieldCode="AU" term="%22Hernandez-Quiceno+S%22">Hernandez-Quiceno S</searchLink>; Departamento de Endocrinología Pediátrica, Universidad de Antioquia, Carrera 51D 62-29, Medellín, Colombia.<br /><searchLink fieldCode="AU" term="%22Cock-Rada+AM%22">Cock-Rada AM</searchLink>; Unidad de Genetica Médica, Facultad de Medicina, Universidad de Antioquia, Carrera 51D 62-29, Medellín, Colombia.
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  Data: <searchLink fieldCode="JN" term="%22101512910%22">Case reports in medicine</searchLink> [Case Rep Med] 2017; Vol. 2017, pp. 7162737. <i>Date of Electronic Publication: </i>2017 Feb 01.
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      – TitleFull: Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.
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