Article
Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Clinical journal of the American Society of Nephrology : CJASN - 7 Dec 2017
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
Abstract excerpt
BACKGROUND AND OBJECTIVES: 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. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We evaluated 97 individuals with Joubert syndrome at the National Institutes of Health Clinical Center using abdominal...
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