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X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient

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dc.affiliation.dptoUC3M. Departamento de Bioingenieríaes
dc.affiliation.grupoinvUC3M. Grupo de Investigación: Tissue Engineering and Regenerative Medicine (TERMeG)es
dc.contributor.authorHernandez Martin, Maria Angela
dc.contributor.authorCuadrado-Corrales, Natividad
dc.contributor.authorCiria-Abad, Sara
dc.contributor.authorArias-Palomo, Dolores
dc.contributor.authorMascaro-Galy, Jose Manuel
dc.contributor.authorEscámez Toledano, María José
dc.contributor.authorGarcía Díez, Marta
dc.contributor.authorRío Nechaevsky, Marcela del
dc.contributor.authorTorrelo, Antonio
dc.contributor.authorGonzalez-Sarmiento, Rogelio
dc.date.accessioned2021-11-03T10:08:25Z
dc.date.available2021-11-03T10:08:25Z
dc.date.issued2010-08
dc.description.abstractX-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.extent4
dc.identifier.bibliographicCitationHernández-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.doihttps://doi.org/10.1159/000313507
dc.identifier.issn1018-8665
dc.identifier.publicationfirstpage113
dc.identifier.publicationissue2
dc.identifier.publicationlastpage116
dc.identifier.publicationtitleDermatologyen
dc.identifier.publicationvolume221
dc.identifier.urihttps://hdl.handle.net/10016/33518
dc.identifier.uxxiAR/0000012916
dc.language.isoeng
dc.publisherKarger Publishersen
dc.rights© 2010 S. Karger AG, Baselen
dc.rights.accessRightsopen accessen
dc.subject.ecienciaBiología y Biomedicinaes
dc.subject.otherX-Linked Ichthyosisen
dc.subject.otherEpidermolysis bullosaen
dc.subject.otherGenodermatosesen
dc.titleX-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patienten
dc.typeresearch article*
dc.type.hasVersionAM*
dspace.entity.typePublication
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