Opitz award-winning paper details genetic cause of CODAS syndrome: Research points to new categories of rare disorder

Am J Med Genet A. 2016 Oct;170(10):2497-8. doi: 10.1002/ajmg.a.37971.
No abstract available

MeSH terms

  • ATP-Dependent Proteases / genetics
  • Awards and Prizes
  • Craniofacial Abnormalities / etiology
  • Craniofacial Abnormalities / genetics*
  • Eye Abnormalities / etiology
  • Eye Abnormalities / genetics*
  • Growth Disorders / etiology
  • Growth Disorders / genetics*
  • HSP70 Heat-Shock Proteins / genetics
  • Hip Dislocation, Congenital / etiology
  • Hip Dislocation, Congenital / genetics*
  • Humans
  • Mitochondrial Proteins / genetics
  • Osteochondrodysplasias / etiology
  • Osteochondrodysplasias / genetics*
  • Tooth Abnormalities / etiology
  • Tooth Abnormalities / genetics*

Substances

  • HSP70 Heat-Shock Proteins
  • HSPA9 protein, human
  • Mitochondrial Proteins
  • ATP-Dependent Proteases
  • LONP1 protein, human

Supplementary concepts

  • CODAS syndrome