Article

Disruption of the topological associated domain at Xp21.2 is related to gonadal dysgenesis: A general mechanism of pathogenesis

2020-03-30

Abstract excerpt

Duplications of dosage sensitive sex-locus Xp21.2 including NR0B1 have been linked to 46,XY gonadal dysgenesis (GD) and their effects are attributed merely to increase gene dosage of NR0B1 ( DAX1 ). Here we present a general mechanism how deletions, duplications, triplications or inversions with or without NR0B1 at Xp21.2 can lead to partial or complete GD by disrupting the cognate topological associated domain (T...

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Literature Corpus work: aac68123-5e92-5a76-8f1e-4c91182e1f7a
DOI: 10.1101/2020.03.25.20041418

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