A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing

Clin Endocrinol (Oxf). 2017 Oct;87(4):407-408. doi: 10.1111/cen.13396. Epub 2017 Jul 24.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 17-Hydroxysteroid Dehydrogenases / deficiency
  • 17-Hydroxysteroid Dehydrogenases / genetics*
  • Child
  • Consanguinity
  • Exome Sequencing
  • Gonadal Dysgenesis, 46,XY / enzymology
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Humans
  • Male
  • Mutation, Missense

Substances

  • 17-Hydroxysteroid Dehydrogenases
  • 17beta-hydroxysteroid dehydrogenase type 3