Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder
- PMID: 6705261
- DOI: 10.1111/j.1399-0004.1984.tb01990.x
Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder
Abstract
Two siblings born to consanguineous parents are reported with typical clinical features of the Ehlers-Danlos syndrome type IV. However, their cultured skin fibroblasts synthesize and secrete procollagen type III in normal amounts and proportions. This is probably a new form of the Ehlers-Danlos syndrome with autosomal recessive inheritance classified as Ehlers-Danlos syndrome type IV D.
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