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New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

Fig 2

Schematic view of NR5A1.

Scheme of the DNA-binding domain containing the zinc finger domain (ZnF) and the Ftz-F1 box, the hinge region (HR) and the ligand binding domain (LBD) with activation function 2 (AF2) of NR5A1. Positions of the mutation p.T40P, p.D18_G22del and amino acid Y211 are indicated.

Fig 2

doi: https://doi.org/10.1371/journal.pone.0176720.g002