Article
Ehlers-Danlos syndrome type VII: phenotype and genotype.
Archives of dermatological research - 1 Jan 1994
Lehmann H W, Mundlos S, Winterpacht A, Brenner R E, Zabel B, Müller P K
Abstract excerpt
A patient suffering from a severe form of Ehlers-Danlos syndrome is presented (EDS type VII). The presence of bilateral congenital hip dislocation, generalized joint hypermobility and a soft hyperelastic skin with abnormal scarring suggested a specific collagen type I defect. SDS-PAGE analysis of collagens secreted into the medium of fibroblast cultures showed a retarded migration of more than half of the alpha...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
