Case Report

An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam

Figure 2

Genetic analysis of the patient. (a) 46,XY karyotype and (b, c) sanger sequencing results revealed c.680G>A (p.Arg227Gln) and c.485A>C (p. His162Pro) mutations.
(a)
(b)
(c)