Articles with "xp21" as a keyword



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Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis

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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… read more here.

Keywords: disruption topologically; xp21; gonadal dysgenesis; associated domain ... See more keywords