Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease.
Coll
E
E
Service of Nephrology, Hospital Clínic, University of Barcelona, Spain.
Torra
R
R
Pascual
J
J
Botey
A
A
Ara
J
J
Pérez
L
L
Ballesta
F
F
Darnell
A
A
D000328:Adult; D017668:Age of Onset; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications*; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000150:complications* / Q000175:diagnosis*; D010641:Phenotype; D007690:Polycystic Kidney Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D014463:Ultrasonography