X-LINKED ICHTHYOSIS DUE TO STEROID-SULPHATASE DEFICIENCY

Larry J. Shapiro, Roberta Weiss, Dianne Webster, John T. France

    Research output: Contribution to journalArticlepeer-review

    245 Scopus citations

    Abstract

    An assay of cultured skin fibroblasts identified several individuals with 3β-hydroxysteroid-sulphate sulphatase deficiency. All patients with this inborn error of metabolism had clinically apparent ichthyosis and a family history of this skin disorder compatible with X-linked inheritance. It is concluded that steroid-sulphatase deficiency is the bio chemical basis of at least some cases of X-linked ichthyosis.

    Original languageEnglish
    Pages (from-to)70-72
    Number of pages3
    JournalThe Lancet
    Volume311
    Issue number8055
    DOIs
    StatePublished - Jan 14 1978

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