A case of cohesinopathy with a novel de-novo SMC1A splice site mutation

Clin Dysmorphol. 2013 Oct;22(4):143-145. doi: 10.1097/MCD.0b013e3283645439.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cell Cycle Proteins / genetics*
  • Cell Cycle Proteins / metabolism*
  • Child
  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosomal Proteins, Non-Histone / metabolism*
  • Cohesins
  • De Lange Syndrome / genetics*
  • De Lange Syndrome / pathology
  • Female
  • Humans
  • Infant, Newborn
  • Mutation
  • RNA Splice Sites / genetics*
  • Structural Maintenance of Chromosome Protein 1

Substances

  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • RNA Splice Sites
  • Structural Maintenance of Chromosome Protein 1