Associated Papers
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.
Sreenivasan R et al.
Human Mutation, 2018
Inguinal hernia in a phenotypic female infant may reveal a 46XY sex reversal, supported by the identification of a novel SF1 gene mutation.
Sinha SK et al.
Advances in Experimental Medicine and Biology, 2011
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