A novel missense mutation of NR5A1 c.46T>C (p.C16R) in a Chinese infant with ambiguous genitalia

Asian J Androl. 2022 Jul-Aug;24(4):438-440. doi: 10.4103/aja202185.

Authors

Dan Zhang¹, Ying Xin¹, Ming-Yu Li², Ling-Zhe Meng¹, Ya-Jie Tong¹

Affiliations

¹ Department of Pediatric Endocrine and Metabolism, Shengjing Hospital of China Medical University, Shenyang 110004, China.
² Department of Clinical Laboratory, Shengjing Hospital of China Medical University, Shenyang 110004, China.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Asian People / genetics
China
Disorders of Sex Development* / genetics
Humans
Infant
Mutation
Mutation, Missense*
Steroidogenic Factor 1 / genetics

Substances

NR5A1 protein, human
Steroidogenic Factor 1