Ciliopathies: An expanding disease spectrum

Pediatric Nephrology

Volumn 26, Issue 7, 2011, Pages 1039-1056

  Waters, Aoife M ^a,b   Beales, Philip L ^b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Ciliopathy; Heterogeneous; Renal disease; Retinal disease

Indexed keywords

PROTEOME; SONIC HEDGEHOG PROTEIN; WNT PROTEIN;

ALSTROM SYNDROME; BARDET BIEDL SYNDROME; BIOGENESIS; CAVALLAZZI SYNDROME; CELL MOTILITY; CHONDRODYSPLASIA; CILIOPATHY; CLINICAL FEATURE; CYSTIC FIBROSIS; DISEASE ASSOCIATION; DYSOSTOSIS; ELLIS VAN CREVELD SYNDROME; EUKARYOTIC FLAGELLUM; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HUMAN; INTRACELLULAR SIGNALING; JEUNE ASPHYXIATING THORACIC DYSTROPHY; JOUBERT SYNDROME; KIDNEY DYSPLASIA; KIDNEY POLYCYSTIC DISEASE; LEBER CONGENITAL AMAUROSIS; LIGAND BINDING; MALFORMATION SYNDROME; MECKEL SYNDROME; NEPHRONOPHTHISIS; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; RETINA DISEASE; REVIEW; SENIOR LOKEN SYNDROME;

ANIMALS; CILIA; CILIARY MOTILITY DISORDERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KIDNEY DISEASES; LIVER DISEASES; MUTATION; PHENOTYPE; RETINAL DISEASES; SIGNAL TRANSDUCTION;

EID: 80052446941     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-010-1731-7     Document Type: Review

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