A novel missense mutation of NR5A1 c.46T>C (p.C16R) in a Chinese infant with ambiguous genitalia.
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| Title: | A novel missense mutation of NR5A1 c.46T>C (p.C16R) in a Chinese infant with ambiguous genitalia. |
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| Authors: | Zhang D; Department of Pediatric Endocrine and Metabolism, Shengjing Hospital of China Medical University, Shenyang 110004, China., Xin Y; Department of Pediatric Endocrine and Metabolism, Shengjing Hospital of China Medical University, Shenyang 110004, China., Li MY; Department of Clinical Laboratory, Shengjing Hospital of China Medical University, Shenyang 110004, China., Meng LZ; Department of Pediatric Endocrine and Metabolism, Shengjing Hospital of China Medical University, Shenyang 110004, China., Tong YJ; Department of Pediatric Endocrine and Metabolism, Shengjing Hospital of China Medical University, Shenyang 110004, China. |
| Source: | Asian journal of andrology [Asian J Androl] 2022 Jul-Aug; Vol. 24 (4), pp. 438-440. |
| Publication Type: | Case Reports; Letter |
| Journal Info: | Publisher: Shanghai Materia Medica Country of Publication: China NLM ID: 100942132 Publication Model: Print Cited Medium: Internet ISSN: 1745-7262 (Electronic) Linking ISSN: 1008682X NLM ISO Abbreviation: Asian J Androl Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1745-7262 |
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| DOI: | 10.4103/aja202185 |
