article_metadata: Toru Sasaki Shinji Suzuki Masanori Ono Akiko Yamamoto Masato Bingo Gaku Yamanaka Masahiko Kuroda Natsuko Inagaki Hirotaka Nishi
article_metadata: 10.3389/fmed.2024.1441990
article_metadata: Front Med (Lausanne)
article_metadata: 2024 Aug 1:11:1441990.
article_metadata: case report complete gonadal dysgenesis disorder of sex development genomic structural variants pathogenicity
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39149602/
article_metadata: Case Reports
article_metadata: PMC11324534
article_metadata: 39149602
article_metadata: Case report: Rare heterozygous variant in the NR5A1 gene causing 46,XY complete gonadal dysgenesis with a non-communicating rudimentary uterus
article_metadata: 2024