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Asian J Androl. 2019 Feb 15. doi: 10.4103/aja.aja_123_18. [Epub ahead of print]

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

Author information

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.
PMID:
30785124
DOI:
10.4103/aja.aja_123_18
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