Am J Hum Genet. 1979 Jan;31(1):50-3.

Steroid-sulfatase deficiency in sex-linked ichthyosis.

Abstract

Steroid-sulfatase activity was absent in the cultured fibroblasts of nine affected members of eight families with sex-linked ichthyosis. An intermediate value of enzyme activity was found in an obligate heterozygote and a normal value in a patient with ichthyosis vulgaris. Cultured epidermal cells of an affected individual also had no enzyme activity, while normal cultured epidermal cells did.

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PMCID:: PMC1685684

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