Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1

J Med Genet. 2002 Apr;39(4):292-6. doi: 10.1136/jmg.39.4.292.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Finland
  • Genes, Lethal / genetics
  • Humans
  • Infant
  • Male
  • Mutation / genetics*
  • Orofaciodigital Syndromes / genetics*
  • Pedigree
  • Polycystic Kidney Diseases / genetics
  • Proteins / genetics*

Substances

  • OFD1 protein, human
  • Proteins