Associated Papers
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency.
Sasaki G et al.
Endocrine Journal, 2019
Phenotype, genotype and gender identity in a large cohort of patients from India with 5α-reductase 2 deficiency.
Shabir I et al.
Andrology, 2015
Molecular diagnosis of 46,XY DSD and identification of a novel 8 nucleotide deletion in exon 1 of the SRD5A2 gene.
Nagaraja MR et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
Sasaki G et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
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