Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations - Concepedia

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Publication | Open Access

Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations

DOI Full Paper Access

70

Citations

75

References

2011

Year

Kevin C. Knower, Sabine Kelly, Louisa Ludbrook, Stefan Bagheri‐Fam, Helena Sim, Pascal Bernard, Ryohei Sekido, Robin Lovell‐Badge, Vincent R. Harley

Abstract

We demonstrate how three human sex-determining factors are likely to function during gonadal development around SOX9 as a hub gene, with different genetic causes of 46,XY DSD due a common failure to upregulate SOX9 transcription.

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