Identification of a novel mutation in the SRD5A2 gene of one patient with 46,XY disorder of sex development

Asian J Androl. 2018 Sep-Oct;20(5):518-519. doi: 10.4103/aja.aja_34_18.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics*
  • Child, Preschool
  • DNA Mutational Analysis
  • Disorder of Sex Development, 46,XY / genetics*
  • Female
  • Humans
  • Membrane Proteins / genetics*
  • Mutation*

Substances

  • Membrane Proteins
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
  • SRD5A2 protein, human