Associated Papers
Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.
Li L et al.
Italian Journal of Pediatrics, 2022
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
Identification of a novel mutation in the SRD5A2 gene of one patient with 46,XY disorder of sex development.
Li SP et al.
Asian Journal of Andrology, 0
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