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

Dan Zhang¹, Ying Xin¹, Ming-Yu Li², Ling-Zhe Meng¹, Ya-Jie Tong^1
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

Correspondence Address:
Ya-Jie Tong,
Department of Pediatric Endocrine and Metabolism, Shengjing Hospital of China Medical University, Shenyang 110004
China

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aja202185

PMID: 34975071