Fig. 3

Sequence analysis of SRD5A2 in the cases’ father II-1, mother II-2 and younger sister III-3. a. The heterozygous mutation p.Q6X (c.16C > T) in SRD5A2 gene was only found in their mother, not found in their father and younger sister. b. The heterozygous mutation p.H232R (c.695A > G) in SRD5A2 gene was found in their patient's father and younger sister, not found in their mother. Red arrows indicate mutated nucleotide. Green arrows indicate unmutated nucleotide