August 1, 2024Open Access

Case report: Rare heterozygous variant in the NR5A1 gene causing 46,XY complete gonadal dysgenesis with a non-communicating rudimentary uterus

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The nuclear receptor subfamily 5 group A member 1 (

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Sasaki et al. (Thu,) studied this question.

Toru Sasaki

Tokyo Medical University

Shinji Suzuki

Tokyo University of Agriculture

Masanori Ono

Tokyo Medical University

Frontiers in Medicine

Tokyo Medical University

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