Journal article

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

Rajini Sreenivasan, Louisa Ludbrook, Brett Fisher, Faustine Declosmenil, Kevin C Knower, Brittany Croft, Anthony D Bird, Janelle Ryan, Anu Bashamboo, Andrew H Sinclair, Peter Koopman, Ken McElreavey, Francis Poulat, Vincent R Harley

Human Mutation | WILEY | Published : 2018