Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up

Am J Med Genet A. 2015 Apr;167A(4):894-901. doi: 10.1002/ajmg.a.36954. Epub 2015 Mar 3.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Collagen Type II / genetics*
  • Female
  • Genetic Association Studies
  • Humans
  • Male
  • Mutation, Missense
  • Osteochondrodysplasias / diagnostic imaging*
  • Osteochondrodysplasias / genetics
  • Radiography
  • Young Adult

Substances

  • COL2A1 protein, human
  • Collagen Type II