NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

J Med Genet. 2004 Dec;41(12):e128. doi: 10.1136/jmg.2004.026666.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cell Cycle Proteins
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 18
  • Cytogenetic Analysis
  • De Lange Syndrome / genetics*
  • Female
  • Follow-Up Studies
  • Genetic Heterogeneity*
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Mutation*
  • Parents
  • Proteins / genetics*

Substances

  • Cell Cycle Proteins
  • NIPBL protein, human
  • Proteins