Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome

Am J Med Genet A. 2010 Apr;152A(4):1028-32. doi: 10.1002/ajmg.a.33121.
No abstract available

Publication types

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

MeSH terms

  • Base Pairing / genetics
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4 / genetics*
  • Comparative Genomic Hybridization
  • Developmental Disabilities / complications
  • Developmental Disabilities / etiology*
  • Developmental Disabilities / genetics
  • Facies
  • Female
  • Haploidy*
  • Histone-Lysine N-Methyltransferase / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Pregnancy
  • Repressor Proteins / genetics*
  • Wolf-Hirschhorn Syndrome / complications*
  • Wolf-Hirschhorn Syndrome / genetics*

Substances

  • Repressor Proteins
  • Histone-Lysine N-Methyltransferase
  • NSD2 protein, human