A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility

J Genet Genomics. 2020 Dec 20;47(12):785-788. doi: 10.1016/j.jgg.2020.09.004. Epub 2020 Nov 18.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Infertility, Female / genetics*
  • Infertility, Female / pathology
  • Mutation / genetics
  • Nuclear Proteins / genetics*
  • Ovarian Reserve / genetics*
  • Pedigree
  • TATA Box Binding Protein-Like Proteins / genetics*

Substances

  • Nuclear Proteins
  • TATA Box Binding Protein-Like Proteins
  • TBPL2 protein, human