Publication: X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient
dc.affiliation.dpto | UC3M. Departamento de Bioingeniería | es |
dc.affiliation.grupoinv | UC3M. Grupo de Investigación: Tissue Engineering and Regenerative Medicine (TERMeG) | es |
dc.contributor.author | Hernandez Martin, Maria Angela | |
dc.contributor.author | Cuadrado-Corrales, Natividad | |
dc.contributor.author | Ciria-Abad, Sara | |
dc.contributor.author | Arias-Palomo, Dolores | |
dc.contributor.author | Mascaro-Galy, Jose Manuel | |
dc.contributor.author | Escámez Toledano, María José | |
dc.contributor.author | García Díez, Marta | |
dc.contributor.author | Río Nechaevsky, Marcela del | |
dc.contributor.author | Torrelo, Antonio | |
dc.contributor.author | Gonzalez-Sarmiento, Rogelio | |
dc.date.accessioned | 2021-11-03T10:08:25Z | |
dc.date.available | 2021-11-03T10:08:25Z | |
dc.date.issued | 2010-08 | |
dc.description.abstract | 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. | en |
dc.format.extent | 4 | |
dc.identifier.bibliographicCitation | Hernández-Martín, A., Cuadrado-Corrales, N., Ciria-Abad, S., Arias-Palomo, D., Mascaró-Galy, J., Escámez, M., García, M., del Río, M., Torrelo, A. & González-Sarmiento, R. (2010). X-Linked Ichthyosis along with Recessive Dystrophic Epidermolysis Bullosa in the Same Patient. Dermatology, 221(2), pp. 113–116. | en |
dc.identifier.doi | https://doi.org/10.1159/000313507 | |
dc.identifier.issn | 1018-8665 | |
dc.identifier.publicationfirstpage | 113 | |
dc.identifier.publicationissue | 2 | |
dc.identifier.publicationlastpage | 116 | |
dc.identifier.publicationtitle | Dermatology | en |
dc.identifier.publicationvolume | 221 | |
dc.identifier.uri | https://hdl.handle.net/10016/33518 | |
dc.identifier.uxxi | AR/0000012916 | |
dc.language.iso | eng | |
dc.publisher | Karger Publishers | en |
dc.rights | © 2010 S. Karger AG, Basel | en |
dc.rights.accessRights | open access | en |
dc.subject.eciencia | Biología y Biomedicina | es |
dc.subject.other | X-Linked Ichthyosis | en |
dc.subject.other | Epidermolysis bullosa | en |
dc.subject.other | Genodermatoses | en |
dc.title | X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient | en |
dc.type | research article | * |
dc.type.hasVersion | AM | * |
dspace.entity.type | Publication |
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