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Título: | X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient |
Autor: | González-Sarmiento, Rogelio CSIC ORCID | Fecha de publicación: | 2010 | Editor: | S. Karger AG | Citación: | Dermatology 221(2): 113-116 (2010) | Resumen: | X-linked ichthyosis (XLI) is a relatively common keratinization disorder which is caused, in the vast majority of cases, by a total deletion of the sulfatase steroid (STS) gene. Dystrophic epidermolysis bullosa (DEB) is a scarring form of epidermolysis bullosa of either autosomal recessive or dominant inheritance secondary to collagen VII gene mutations. We report the first case of a patient with both XLI and DEB in whom a partial deletion of the STS gene and a recessive point mutation in COL7A1 were demonstrated. Copyright © 2010 S. Karger AG, Basel. | URI: | http://hdl.handle.net/10261/63728 | DOI: | 10.1159/000313507 | Identificadores: | doi: 10.1159/000313507 issn: 1018-8665 e-issn: 1421-9832 |
Aparece en las colecciones: | (IBMCC) Artículos |
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