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Case Reports
. 1984 Mar;25(3):278-87.
doi: 10.1111/j.1399-0004.1984.tb01990.x.

Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder

Case Reports

Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder

H M Sulh et al. Clin Genet. 1984 Mar.

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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