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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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摘要 Dear Editor,46,XY disorders/differences of sex development(DSD)includes a broad spectrum of disorders caused by genetic mutations,changes in the production of testicular hormones,or altered peripheral responses to testicular hormones,resulting in varying degrees of undervirilization.1.2 Infants with 46,XY DSD might exhibit a variety of ambiguous genital phenotypes,and the management of these individuals can prove challenging.
出处 《Asian Journal of Andrology》 SCIE CAS CSCD 2022年第4期438-440,共3页 亚洲男性学杂志(英文版)
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