Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

J Med Genet. 2003 Feb;40(2):136-40. doi: 10.1136/jmg.40.2.136.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Animals
  • Cell Line
  • Child
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7 / genetics*
  • Cognition / physiology
  • Female
  • Genotype
  • Humans
  • Hybrid Cells
  • Mice
  • Microsatellite Repeats
  • Phenotype
  • Repetitive Sequences, Nucleic Acid / genetics
  • Williams Syndrome / genetics*
  • Williams Syndrome / pathology
  • Williams Syndrome / physiopathology