Exome Sequencing as a Tool for Detecting Point Mutations and Deletions in Patients With Hypogonadotropic Hypogonadism

J Clin Endocrinol Metab. 2022 Sep 28;107(10):e4254-e4255. doi: 10.1210/clinem/dgac377.
No abstract available

Keywords: GnRH; Kallmann syndrome; congenital hypogonadotropic hypogonadism; delayed puberty; exome; gonadotropin deficiency.

Publication types

  • Comment

MeSH terms

  • DNA Copy Number Variations
  • Exome / genetics
  • Humans
  • Hypogonadism* / diagnosis
  • Hypogonadism* / genetics
  • Kallmann Syndrome* / genetics
  • Klinefelter Syndrome* / genetics
  • Point Mutation
  • Prevalence