Most caucasian patients with X-linked ichthyosis (XLI) reportedly display large genomic deletions involving the entire steroid sulphatase (STS) gene and flanking regions. In this study, we investigated the deletion patterns of the STS gene and flanking regions in 12 unrelated Japanese patients with
The effect of steroid sulphatase on stratum corneum shedding in patients with X-linked ichthyosis
β Scribed by T. YOSHIIKE; T. MATSUI; T. KIMURA; H. YAMADA; H. OGAWA
- Book ID
- 108659024
- Publisher
- John Wiley and Sons
- Year
- 1985
- Tongue
- English
- Weight
- 196 KB
- Volume
- 113
- Category
- Article
- ISSN
- 0007-0963
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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
## Abstract We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another