Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/41178
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dc.contributor.authorRincon-Sanchez, A.R.-
dc.contributor.authorArce, I.E.-
dc.contributor.authorTostado-Rabago, E.A.-
dc.contributor.authorVargas, A.-
dc.contributor.authorPadilla-Gomez, L.A.-
dc.contributor.authorBolanos, A.-
dc.contributor.authorBarrios-Guyot, S.-
dc.contributor.authorAnguiano-Alvarez, V.M.-
dc.contributor.authorLedezma-Rodriguez, V.C.-
dc.contributor.authorIslas-Carbajal, M.C.-
dc.contributor.authorRivas-Estilla, A.M.-
dc.contributor.authorFeria-Velasco, A.-
dc.contributor.authorDavalos, N.O.-
dc.date.accessioned2015-09-15T17:52:22Z-
dc.date.available2015-09-15T17:52:22Z-
dc.date.issued2012-
dc.identifier.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-84860730577&partnerID=40&md5=68ebc558d7511a76931082cb0fd73f57-
dc.identifier.urihttp://hdl.handle.net/20.500.12104/41178-
dc.description.abstractEhlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or 'human dermatosparaxis' is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria) with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria). Dermatosparaxis (meaning 'tearing of skin'), which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts. We describe a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities. Copyright 2012 S. Karger AG, Basel.-
dc.relation.isreferencedbyScopus-
dc.titleEhlers-danlos syndrome type VIIC: A Mexican case report-
dc.typeArticle-
dc.identifier.doi10.1159/000338277-
dc.relation.ispartofjournalCase Reports in Dermatology-
dc.relation.ispartofvolume4-
dc.relation.ispartofissue1-
dc.relation.ispartofpage104-
dc.relation.ispartofpage113-
dc.subject.keywordADAMTS2 gene; Ehlers-Danlos syndrome; Elastic connective tissue; Human dermatosparaxis-
dc.contributor.affiliationRincón-Sánchez, A.R., Institutos de Enfermedades Crónico Degenerativas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, México; Arce, I.E., Neonatología, Hospital Regional Dr. Valentín Gómez Farias ISSSTE, Zapopan, México; Tostado-Rabago, E.A., Cirugía-Pediátrica, Hospital Regional Dr. Valentín Gómez Farias ISSSTE, Zapopan, México; Vargas, A., Oftalmología, Hospital Regional Dr. Valentín Gómez Farias ISSSTE, Zapopan, México; Padilla-Gómez, L.A., Neuropediatría, Hospital Regional Dr. Valentín Gómez Farias ISSSTE, Zapopan, México; Bolaños, A., Ortopedia y Traumatología, Hospital Regional Dr. Valentín Gómez Farias ISSSTE, Zapopan, México; Barrios-Guyot, S., Cardiopediatría, Hospital Regional Dr. Valentín Gómez Farias ISSSTE, Zapopan, México; Anguiano-Alvarez, V.M., Institutos de Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, México; Ledezma-Rodríguez, V.C., Institutos de Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, México; Islas-Carbajal, M.C., Unidad de Investigación Cardiovascular, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, México; Rivas-Estilla, A.M., Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, México; Feria-Velasco, A., Laboratorio de Neurobiología Celular, Departamento de Biología Molecular CUCBA, Universidad de Guadalajara, Guadalajara, México; Dávalos, N.O., Institutos de Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, México, Genética, Hospital Regional Dr. Valentín Gómez Farias ISSSTE, Zapopan, México-
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