Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease.
Toprak
Omer
O
Department of Nephrology, Medical School of Ege University, Izmir, Turkey. info@omertoprak.com
Uzum
Atilla
A
Cirit
Mustafa
M
Esi
Ertap
E
Inci
Ayca
A
Ersoy
Rifki
R
Tanrisev
Mehmet
M
Ok
Ercan
E
Franco
Brunella
B
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
C115130:OFD1 protein, human; D011506:Proteins