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Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature

✍ Scribed by Kirtisudha Mishra; Vineeta Vijay Batra; Srikanta Basu; Bimbadhar Rath; Renu Saxena


Book ID
113042752
Publisher
Springer
Year
2012
Tongue
English
Weight
228 KB
Volume
171
Category
Article
ISSN
0340-6997

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X-linked ichthyosis, due to steroid sulp
✍ A. Ballabio; G. Parenti; P. Tippett; C. Mondello; S. Maio; A. Tenore; G. Andria 📂 Article 📅 1986 🏛 Springer 🌐 English ⚖ 486 KB

We report a large Italian pedigree in which five out of six males are affected by a syndrome, following an X-linked inheritance pattern, characterized by ichthyosis, hypogonadotropic hypogonadism, and anosmia. The concurrence of features of X-linked ichthyosis (XLI) with those of Kallmann syndrome,