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

Pubmed ID: 
30552336
Year: 
2018
Month: 
12
Volume: 
9
Issue: 
1
Citation: 
Croft B, Ohnesorg T, Hewitt J, Bowles J, Quinn A, Tan J, Corbin V, Pelosi E, van den Bergen J, Sreenivasan R, Knarston I, Robevska G, Vu DC, Hutson J, Harley V, Ayers K, Koopman P, Sinclair A. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. NATURE COMMUNICATIONS 9 (1) : 5319(2018) PubMed