Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen

Volume: 19, Issue: 3, Pages: 607 - 622
Published: Nov 1, 1984
Abstract
Ehlers-Danlos syndrome type IV (EDS IV) is characterized by variable changes in the skin, arterial fragility, bowel perforation, minimal joint involvement, and either autosomal recessive or autosomal dominant inheritance. The unifying biochemical abnormality is a deficiency of type III collagen; all patients studied thus far have shown a defect in either synthesis or in secretion of type III procollagen. We report on an adolescent boy who...
Paper Details
Title
Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen
Published Date
Nov 1, 1984
Volume
19
Issue
3
Pages
607 - 622
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