[O5] Oral Session 5　Rare Diseases

[O5-5] Rare variant in the NR5A1 gene causing 46,XY complete gonadal dysgenesis with a non-communicating rudimentary uterus

^○Toru Sasaki¹, Shinji Suzuki², Masanori Ono¹, Akiko Yamamoto¹, Masato Bingo^3,4, Gaku Yamanaka², Masahiko Kuroda⁵, Natsuko Inagaki^3,6, Hirotaka Nishi¹ (1.Department of Obstetrics and Gynecology, Tokyo Medical University, Tokyo, Japan, 2.Department of Pediatrics, Tokyo Medical University, Tokyo, Japan, 3.Department of Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan, 4.Department of Laboratory Medicine, Tokyo Medical University, Tokyo, Japan, 5.Department of Molecular Pathology, Tokyo Medical University, Tokyo, Japan, 6.Department of Cardiology, Tokyo Medical University, Tokyo, Japan)

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