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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.
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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  Data: A novel missense mutation of NR5A1 c.46T>C (p.C16R) in a Chinese infant with ambiguous genitalia.
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  Data: <searchLink fieldCode="AU" term="%22Zhang+D%22">Zhang D</searchLink>; Department of Pediatric Endocrine and Metabolism, Shengjing Hospital of China Medical University, Shenyang 110004, China.<br /><searchLink fieldCode="AU" term="%22Xin+Y%22">Xin Y</searchLink>; Department of Pediatric Endocrine and Metabolism, Shengjing Hospital of China Medical University, Shenyang 110004, China.<br /><searchLink fieldCode="AU" term="%22Li+MY%22">Li MY</searchLink>; Department of Clinical Laboratory, Shengjing Hospital of China Medical University, Shenyang 110004, China.<br /><searchLink fieldCode="AU" term="%22Meng+LZ%22">Meng LZ</searchLink>; Department of Pediatric Endocrine and Metabolism, Shengjing Hospital of China Medical University, Shenyang 110004, China.<br /><searchLink fieldCode="AU" term="%22Tong+YJ%22">Tong YJ</searchLink>; Department of Pediatric Endocrine and Metabolism, Shengjing Hospital of China Medical University, Shenyang 110004, China.
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  Data: <searchLink fieldCode="JN" term="%22100942132%22">Asian journal of andrology</searchLink> [Asian J Androl] 2022 Jul-Aug; Vol. 24 (4), pp. 438-440.
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  Data: Case Reports; Letter
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Shanghai+Materia+Medica%22">Shanghai Materia Medica </searchLink><i>Country of Publication: </i>China <i>NLM ID: </i>100942132 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1745-7262 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221008682X%22">1008682X </searchLink><i>NLM ISO Abbreviation: </i>Asian J Androl <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.4103/aja202185
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      – Code: eng
        Text: English
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        StartPage: 438
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      – TitleFull: A novel missense mutation of NR5A1 c.46T>C (p.C16R) in a Chinese infant with ambiguous genitalia.
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          Name:
            NameFull: Zhang D
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          Name:
            NameFull: Xin Y
      – PersonEntity:
          Name:
            NameFull: Li MY
      – PersonEntity:
          Name:
            NameFull: Meng LZ
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            NameFull: Tong YJ
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          Dates:
            – D: 01
              M: 07
              Text: 2022 Jul-Aug
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1745-7262
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              Value: 24
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Asian journal of andrology
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