Associated Papers
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Gui B et al.
Journal of Medical Genetics, 2019
Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children.
Fu XH et al.
Genetics and Molecular Research : Gmr, 2016
AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.
Akcay T et al.
Andrology, 2014
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.
Fernández-Cancio M et al.
International Journal of Andrology, 2011
Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.
Sahu R et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
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