A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family
Author:
Publisher
Elsevier BV
Subject
Urology
Reference19 articles.
1. Diagnosis and treatment of disorders of sexual development;Forest,2001
2. Androgens and male physiology;McGinley;Mol Cell Endocrinol,2002
3. Non-isotopic single strand conformation analysis of the 5-reductase type 2 gene for the diagnosis of 5-reductase deficiency;Hiort;J Clin Endocrinol Metab,1996
4. The coexistence of male pseudohermaphrodites with 17-ketosteroid reductase deficiency and 5 alpha-reductase deficiency within a Turkish kindred;Imperato-McGinley;Clin Endocrinol,1987
5. Decreased urinary C19 and C21 steroid 5a metabolites in parents of male pseudohermaphrodites with 5a reductase deficiency;Imperato-McGinley;J Clin Endocrinol Metab,1985
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