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

AuthorsOmer Toprak, Atilla Uzum, Mustafa Cirit, Ertap Esi, Ayca Inci, Rifki Ersoy, Mehmet Tanrisev, Ercan Ok, Brunella Franco
JournalNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (Nephrol Dial Transplant) Vol. 21 Issue 6 Pg. 1705-9 (Jun 2006) ISSN: 0931-0509 [Print] England
PMID16384823 (Publication Type: Case Reports, Journal Article)
Chemical References
  • OFD1 protein, human
  • Proteins
Topics
  • Adult
  • Caroli Disease (complications, diagnosis)
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation
  • Humans
  • Kidney Diseases, Cystic (complications, diagnosis)
  • Kidney Failure, Chronic
  • Orofaciodigital Syndromes (complications, diagnosis, genetics)
  • Proteins (genetics)
  • Sequence Deletion

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