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


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
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aja202185

PMID: 34975071



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    -  Zhang D
    -  Xin Y
    -  Li MY
    -  Meng LZ
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