Fig. 3.

A Cartoon of NR5A1 showing the positions of missense (labeled) and nonsense/frameshift (asterisks) mutations in NR5A1. Those changes associated with a combined adrenal and gonadal phenotype are shown above; those associated with variants of 46,XY DSD but normal adrenal function are shown below. B Overview of the zinc-finger region of the DNA-binding domain (DBD) of SF-1 showing the positions of missense mutations in black boxes. C These missense changes affect highly conserved amino acids in this region. Modified with permission from Lin et al. [2007].