Associated Papers
Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testing.
Uehara E et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2025
In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes.
Zhang W et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2023
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
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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