Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia

Clin Dysmorphol. 2013 Jan;22(1):39-41. doi: 10.1097/MCD.0b013e32835c297e.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Child, Preschool
  • Cleft Palate / genetics*
  • Cleft Palate / pathology
  • Collagen Diseases
  • Collagen Type II / genetics*
  • DNA Mutational Analysis
  • Dwarfism / genetics*
  • Dwarfism / pathology
  • Exons
  • Face / abnormalities
  • Face / pathology
  • Female
  • Genetic Testing / methods
  • Genome, Human
  • Humans
  • Hyaline Membrane Disease / genetics*
  • Hyaline Membrane Disease / pathology
  • Mutation*
  • Osteochondrodysplasias
  • Physical Examination
  • RNA Splice Sites / genetics*

Substances

  • COL2A1 protein, human
  • Collagen Type II
  • RNA Splice Sites

Supplementary concepts

  • Kniest dysplasia