Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency?

Gene. 2012 Dec 15;511(2):480-1. doi: 10.1016/j.gene.2012.09.069. Epub 2012 Sep 28.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Collagen Type XI / genetics*
  • Dwarfism / genetics*
  • Facies
  • Humans
  • Male
  • Mutation, Missense

Substances

  • COL11A1 protein, human
  • Collagen Type XI

Supplementary concepts

  • Fibrochondrogenesis