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) |