Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/41178
Title: Ehlers-danlos syndrome type VIIC: A Mexican case report
Author: Rincon-Sanchez, A.R.
Arce, I.E.
Tostado-Rabago, E.A.
Vargas, A.
Padilla-Gomez, L.A.
Bolanos, A.
Barrios-Guyot, S.
Anguiano-Alvarez, V.M.
Ledezma-Rodriguez, V.C.
Islas-Carbajal, M.C.
Rivas-Estilla, A.M.
Feria-Velasco, A.
Davalos, N.O.
Issue Date: 2012
Abstract: Ehlers-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.
URI: http://www.scopus.com/inward/record.url?eid=2-s2.0-84860730577&partnerID=40&md5=68ebc558d7511a76931082cb0fd73f57
http://hdl.handle.net/20.500.12104/41178
Appears in Collections:Producción científica UdeG

Files in This Item:
There are no files associated with this item.


Items in RIUdeG are protected by copyright, with all rights reserved, unless otherwise indicated.