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Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.

Pubmed ID: 
30067310
Year: 
2018
Month: 
Aug
Citation: 
Sreenivasan R, Ludbrook L, Fisher B, Declosmenil F, Knower KC, Croft B, Bird D, Ryan J, Bashamboo A, Sinclair AH, Koopman P, McElreavey K, Poulat F, Harley V. Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer. HUMAN MUTATION (2018) PubMed (Grant IDs: 334314, 546517)