Cornelia de Lange syndrome: extending the physical and psychological phenotype

Am J Med Genet A. 2010 May;152A(5):1127-35. doi: 10.1002/ajmg.a.33363.
No abstract available

Publication types

  • Congress

MeSH terms

  • Abdomen / diagnostic imaging
  • Adolescent
  • Adult
  • Aging, Premature / complications
  • CCCTC-Binding Factor
  • De Lange Syndrome / complications
  • De Lange Syndrome / pathology*
  • De Lange Syndrome / psychology*
  • Feeding Behavior
  • Genetic Association Studies
  • Humans
  • Infant, Newborn
  • Mutation / genetics
  • Phenotype
  • Repressor Proteins / genetics
  • Ultrasonography

Substances

  • CCCTC-Binding Factor
  • CTCF protein, human
  • Repressor Proteins