PMC3900668_01
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.
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F1
Three affected siblings with 46,XY DSD had been evaluated (Figure 1A).
PMC3900668_02
PMC3900668_03