Variants in KAT6A and pituitary anomalies

Am J Med Genet A. 2017 Sep;173(9):2562-2565. doi: 10.1002/ajmg.a.38330. Epub 2017 Jun 21.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Female
  • Genetic Association Studies*
  • Histone Acetyltransferases / genetics*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Mutation*
  • Phenotype*
  • Pituitary Gland / abnormalities*

Substances

  • Histone Acetyltransferases
  • KAT6A protein, human