Article
Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity.
The Journal of investigative dermatology - 1 Nov 1994
Byers P H
Abstract excerpt
The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of generalized connective tissue disorders, the major manifestations of which are skin fragility, skin hyperextensibility, and joint hypermobility. The clinical and molecular definition of more than ten types of EDS has, more than ever, em...
Topics
- Collagen
- Copper
- Dermatology
- Ehlers-Danlos Syndrome
- Genes, Recessive
- Humans
- Metabolism, Inborn Errors
- Mutation
- Phenotype
- Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase