Article
Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.
American journal of medical genetics - 10 Jan 1997
Fujimoto A, Wilcox W R, Cohn D H
Abstract excerpt
Ehlers-Danlos syndrome (EDS) type VIIC is a newly recognized human disorder which results from failure to remove the amino-terminal propeptide of type I procollagen. Four cases of EDS type VIIC have been reported, and here we describe a fifth case. The propositus was a 1,445 g male infant born at...
Topics
- Adolescent
- Child, Preschool
- Ehlers-Danlos Syndrome
- Female
- Humans
- Infant
- Male
- Microscopy, Electron
- Microscopy, Electron, Scanning
- Phenotype
- Procollagen
- Skin