Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis
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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… read more here.
Keywords: disruption topologically; xp21; gonadal dysgenesis; associated domain ... See more keywords