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Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108635
Abstract: Background Duplications at the Xp21.2 locus have previously been linked to 46,XY gonadal dysgenesis (GD), which is thought to result from gene dosage effects of NR0B1 (DAX1), but the exact disease mechanism remains unknown. Methods…
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Keywords:
disruption topologically;
xp21;
gonadal dysgenesis;
associated domain ... See more keywords