A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis

Asian J Androl. 2019 Sep-Oct;21(5):522-524. doi: 10.4103/aja.aja_123_18.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Female
  • Frameshift Mutation / genetics*
  • Genes, sry
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Humans
  • Menarche
  • Ovary / pathology
  • Oviducts / pathology
  • Sex-Determining Region Y Protein / genetics*

Substances

  • SRY protein, human
  • Sex-Determining Region Y Protein