Associated Papers
Case report: Rare heterozygous variant in the NR5A1 gene causing 46,XY complete gonadal dysgenesis with a non-communicating rudimentary uterus.
Sasaki T et al.
Frontiers in Medicine, 2024
Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome.
Mitsuhashi T et al.
Congenital Anomalies, 2010
Global gene profiling and comprehensive bioinformatics analysis of a 46,XY female with pericentric inversion of the Y chromosome.
Mitsuhashi T et al.
Congenital Anomalies, 2010
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