Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China
Author:
Affiliation:
1. Department of Genetics and Endocrinology; Guangzhou Women and Children's Medical Center; Guangzhou Guangdong China
2. Department of Pediatric Surgery; Guangzhou Women and Children's Medical Center; Guangzhou Guangdong China
Funder
Guangzhou Branch Bureau of Science and Technology Plan Project
National “Twelfth Five-Year” Plan for Science and Technology Support
Publisher
Wiley
Subject
Endocrinology, Diabetes and Metabolism,Endocrinology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cen.12799/fullpdf
Reference40 articles.
1. Steroid 5α-reductase 2 deficiency;Wilson;Endocrine Reviews,1993
2. Role of testosterone binding to the androgen receptor in male sexual differentiation of patients with 5α-reductase deficiency;Maes;Journal of Steroid Biochemistry and Molecular Biology,1979
3. Molecular genetics of steroid 5α-reductase 2 deficiency;Thigpen;Journal of Clinical Investigation,1992
4. Molecular study of the 5α-reductase type 2 gene in three European families with 5α-reductase deficiency;Boudon;Journal of Clinical Endocrinology and Metabolism,1995
5. Mutations of the 5α-steroid reductase type 2 gene in six Turkish patients from unrelated families and a large pedigree of an isolated Turkish village;Ocal;Journal of Pediatric Endocrinology and Metabolism,2002
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