We have studied 16 men, from 10 unrelated Italian families, affected by steroid suphatase (STS) deficiency, which is the basic defect of X-linked ichthyosis (XLI). The patients' clinical diagnoses were of either isolated ichthyosis or ichthyosis associated with Kallmann syndrome (KS) (hypogonadotrop
Steroid sulphatase and arylsulphatase C in X-linked ichthyosis
β Scribed by D. M. Broadhead; A. D. Bain; G. F. Follett; A. W. Johnston
- Publisher
- Springer
- Year
- 1982
- Tongue
- English
- Weight
- 242 KB
- Volume
- 5
- Category
- Article
- ISSN
- 0141-8955
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The X chromosomes of individuals with isolated steroid sulphatase deficiency (X-linked ichthyosis) from ten families were studied by flow karyotype analysis. In four of the families, a small but significant reduction in the relative fluorescence of the X chromosome was detected consistent with a del