Prospective Evaluation of Kidney Disease in Joubert Syndrome

Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single center. We evaluated 97 individuals with Joubert syndrome at the National Institute...

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Veröffentlicht in:	Clinical journal of the American Society of Nephrology 2017-12, Vol.12 (12), p.1962-1973
Hauptverfasser:	Fleming, Leah R, Doherty, Daniel A, Parisi, Melissa A, Glass, Ian A, Bryant, Joy, Fischer, Roxanne, Turkbey, Baris, Choyke, Peter, Daryanani, Kailash, Vemulapalli, Meghana, Mullikin, James C, Malicdan, May Christine, Vilboux, Thierry, Sayer, John A, Gahl, William A, Gunay-Aygun, Meral
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - genetics Abnormalities, Multiple - metabolism Adaptor Proteins, Signal Transducing - genetics Adaptor Proteins, Vesicular Transport Adolescent Adult Age of Onset Antigens, Neoplasm - genetics Cell Cycle Proteins - genetics Cerebellum - abnormalities Cerebellum - diagnostic imaging Cerebellum - metabolism Child Child, Preschool Cytoskeletal Proteins Eye Abnormalities - complications Eye Abnormalities - diagnostic imaging Eye Abnormalities - genetics Eye Abnormalities - metabolism Female Genotype Humans Infant Kidney Diseases, Cystic - complications Kidney Diseases, Cystic - congenital Kidney Diseases, Cystic - diagnostic imaging Kidney Diseases, Cystic - genetics Kidney Diseases, Cystic - metabolism Kidney Failure, Chronic - etiology Kidney Failure, Chronic - genetics Magnetic Resonance Imaging Male Membrane Proteins - genetics Multicystic Dysplastic Kidney - complications Multicystic Dysplastic Kidney - diagnostic imaging Multicystic Dysplastic Kidney - genetics Mutation Neoplasm Proteins - genetics Original Phenotype Polycystic Kidney, Autosomal Recessive - complications Polycystic Kidney, Autosomal Recessive - diagnostic imaging Polycystic Kidney, Autosomal Recessive - genetics Prospective Studies Proteins - genetics Retina - abnormalities Retina - diagnostic imaging Retina - metabolism Ultrasonography, Prenatal Young Adult
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