case_images: PMC3900668_01
case_images: Pedigree of the family and part of NR5A1 exon 3 sequencing. A) Three siblings and the mother carry the mutation c.195G > A. B) Electropherogram showing the c.195G > A heterozygous transition leading to p.Cys65Tyr mutation.
case_images: 1471-2350-15-7-1.jpg
case_images: PMC3900668_01_1471-2350-15-7-1.jpg
case_images: F1
case_images: Three affected siblings with 46,XY DSD had been evaluated (Figure 1A).
case_images: PMC3900668_02
case_images: PMC3900668_03