Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

Clin Genet. 2015 May;87(5):496-8. doi: 10.1111/cge.12466. Epub 2014 Sep 8.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Collagen Type II / genetics*
  • DNA Mutational Analysis
  • Genes, Recessive*
  • Homozygote
  • Humans
  • Male
  • Mutation*
  • Osteochondrodysplasias / congenital*
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics
  • Phenotype
  • Spine / pathology

Substances

  • COL2A1 protein, human
  • Collagen Type II

Supplementary concepts

  • Spondyloepiphyseal dysplasia, congenita