Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11

Mol Genet Genomic Med. 2021 Nov;9(11):e1826. doi: 10.1002/mgg3.1826. Epub 2021 Oct 7.


Publication types

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

MeSH terms

  • Cell Cycle Proteins / genetics
  • De Lange Syndrome* / genetics
  • Humans
  • Phenotype
  • Repressor Proteins / genetics


  • ANKRD11 protein, human
  • Cell Cycle Proteins
  • NIPBL protein, human
  • Repressor Proteins