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STS gene in a pedigree with X-linked ichthyosis

โœ Scribed by Liu An; Xiao Shengxiang; Tan Shengshun; Lei Xiaobing; Zhang Jiangan; Jiao Ting; Liu Yan


Book ID
105624141
Publisher
Springer-Verlag
Year
2005
Tongue
Chinese
Weight
300 KB
Volume
25
Category
Article
ISSN
0510-9752

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Deletions of the steroid sulphatase gene
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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