A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies

Am J Med Genet A. 2013 Apr;161A(4):918-20. doi: 10.1002/ajmg.a.35793. Epub 2013 Mar 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Adult
  • Amino Acid Substitution
  • Collagen Type II / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Variation*
  • Humans
  • Osteochondrodysplasias / congenital*
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics
  • Phenotype*

Substances

  • COL2A1 protein, human
  • Collagen Type II

Supplementary concepts

  • Spondyloepiphyseal dysplasia, congenita