title: Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.
authors.affiliation: Division of Nephrology, Université catholique de Louvain Medical School, B-1200 Brussels, Belgium. devuyst@nefr.ucl.ac.be
authors.forename: Olivier
authors.initials: O
authors.lastname: Devuyst
authors.forename: Véronique J
authors.initials: VJ
authors.lastname: Arnould
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D000818:Animals; D002925:Ciliary Motility Disorders / Q000235:genetics* / Q000503:physiopathology; D003598:Cytoskeletal Proteins; D005838:Genotype; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D010641:Phenotype; D011506:Proteins / Q000235:genetics* / Q000502:physiology; D013577:Syndrome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; C523257:Ftm protein, mouse; D011506:Proteins; C415903:RPGRIP1 protein, human