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Article

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

10 Dec 2018

Abstract excerpt

Disorders of sex development (DSDs) are conditions affecting development of the gonads or genitalia. Variants in two key genes, SRY and its target SOX9, are an established cause of 46,XY DSD, but the genetic basis of many DSDs remains unknown. SRY-mediated SOX9 upregulation in the early gonad is crucial for testis development, yet the regulatory elements underlying this have not been identified in humans. Here,...

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PMID: 30552336
DOI: 10.1038/s41467-018-07784-9

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