Article
The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).
Clinical dysmorphology - 1 Jan 1995
Reardon W, Winter R M, Smith L T, Lake B D, Rossiter M, Baraitser M
Abstract excerpt
Dermatosparaxis (Ehlers-Danlos syndrome type VIIC) has only recently been identified in human subjects. Although well documented in animals, to date only three human cases have been recorded, all aged 2 years or under. We document a 15-year-old girl with this newly recognized condition to emphasi...
Topics
- Adolescent
- Bone Morphogenetic Protein 1
- Bone Morphogenetic Proteins
- Collagen
- Ehlers-Danlos Syndrome
- Endopeptidases
- Female
- Humans
- Metalloendopeptidases
- Microscopy, Electron
- Mutation
- Phenotype