Congenital Heart Defects Due to TAF1 Missense Variants

Circ Genom Precis Med. 2020 Jun;13(3):e002843. doi: 10.1161/CIRCGEN.119.002843. Epub 2020 May 12.
No abstract available

Keywords: developmental delay disorders; heart defects, congenital; mutations, missense; whole exome sequencing.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Heart Defects, Congenital / genetics*
  • Histone Acetyltransferases / genetics*
  • Humans
  • Male
  • Mutation, Missense*
  • TATA-Binding Protein Associated Factors / genetics*
  • Transcription Factor TFIID / genetics*

Substances

  • TATA-Binding Protein Associated Factors
  • Transcription Factor TFIID
  • Histone Acetyltransferases
  • TATA-binding protein associated factor 250 kDa