Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease

Nephrol Dial Transplant. 2006 Jun;21(6):1705-9. doi: 10.1093/ndt/gfk013. Epub 2005 Dec 29.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Caroli Disease / complications*
  • Caroli Disease / diagnosis
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation
  • Humans
  • Kidney Diseases, Cystic / complications*
  • Kidney Diseases, Cystic / diagnosis
  • Kidney Failure, Chronic
  • Orofaciodigital Syndromes / complications*
  • Orofaciodigital Syndromes / diagnosis
  • Orofaciodigital Syndromes / genetics*
  • Proteins / genetics
  • Sequence Deletion

Substances

  • OFD1 protein, human
  • Proteins