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X-linked ichthyosis associated with hypertrophic pyloric stenosis in three brothers

✍ Scribed by A. GARCIA PEREZ; M. CRESPO


Book ID
108690333
Publisher
John Wiley and Sons
Year
1981
Tongue
English
Weight
143 KB
Volume
6
Category
Article
ISSN
0307-6938

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Deletions of the steroid sulphatase gene
✍ A. Ballabio; G. Sebastio; R. Carrozzo; G. Parenti; A. Piccirillo; M. G. Persico; πŸ“‚ Article πŸ“… 1987 πŸ› Springer 🌐 English βš– 626 KB

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