Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A

Am J Med Genet A. 2010 Aug;152A(8):2127-9. doi: 10.1002/ajmg.a.33486.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cell Cycle Proteins / genetics*
  • Child
  • Chromosomal Proteins, Non-Histone / genetics*
  • De Lange Syndrome / genetics*
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Pedigree

Substances

  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • structural maintenance of chromosome protein 1