title: Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease.
authors.affiliation: Department of Nephrology, Medical School of Ege University, Izmir, Turkey. info@omertoprak.com
authors.forename: Omer
authors.initials: O
authors.lastname: Toprak
authors.forename: Atilla
authors.initials: A
authors.lastname: Uzum
authors.forename: Mustafa
authors.initials: M
authors.lastname: Cirit
authors.forename: Ertap
authors.initials: E
authors.lastname: Esi
authors.forename: Ayca
authors.initials: A
authors.lastname: Inci
authors.forename: Rifki
authors.initials: R
authors.lastname: Ersoy
authors.forename: Mehmet
authors.initials: M
authors.lastname: Tanrisev
authors.forename: Ercan
authors.initials: E
authors.lastname: Ok
authors.forename: Brunella
authors.initials: B
authors.lastname: Franco
mesh_terms: D000328:Adult; D016767:Caroli Disease / Q000150:complications* / Q000175:diagnosis; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000150:complications* / Q000175:diagnosis; D007676:Kidney Failure, Chronic; D009958:Orofaciodigital Syndromes / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D017384:Sequence Deletion
chemical_list: C115130:OFD1 protein, human; D011506:Proteins