Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China

Author:

Cheng Jing1,Lin Ruizhu1,Zhang Wen1,Liu Guochang2,Sheng Huiying1,Li Xiuzhen1,Zhou Zhihong1,Mao Xiaojian1,Liu Li1

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

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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