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A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis


1 Department of Andrology, Center for Men's Health, Institute of Urology, Urologic Medical Center, Shanghai General Hospital, Shanghai 200080, China
2 Shanghai Key Laboratory of Reproductive Medicine, Department of Histoembryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
3 Department of Gynecology and Obstetrics, Changxing Maternity and Child Health Care Hospital, Huzhou 313199, China

Correspondence Address:
Qiang Liu,
Shanghai Key Laboratory of Reproductive Medicine, Department of Histoembryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, Shanghai 200025
China
Qun-Ying Zhang,
Department of Gynecology and Obstetrics, Changxing Maternity and Child Health Care Hospital, Huzhou 313199
China
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aja.aja_123_18

PMID: 30785124



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