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Structure of the X–linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome

✍ Scribed by del Castillo, Ignacio; Cohen-Salmon, Martine; Blanchard, Stéphane; Lutfalla, Georges; Petit, Christine

Book ID
109918814
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
755 KB
Volume
2
Category
Article
ISSN
1061-4036

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Deletions of the steroid sulphatase gene
Deletions of the steroid sulphatase gene in “classical” X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome
✍ A. Ballabio; G. Sebastio; R. Carrozzo; G. Parenti; A. Piccirillo; M. G. Persico; 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 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