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Paper Details

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Genet Med
89
2017
27-gene, C5orf52, C5orf52, or KIAA0586 variants, CELSR2, Chorioretinal coloboma, JS, JS genes, Joubert syndrome, KIAA0586 variants, KIAA0753, TMEM67, TMEM67,, cerebellar and brainstem malformations, ciliopathy, kidney disease, liver disease, patients, retinal degeneration
Author NameAffiliation
Dan DohertyUniversity of Washington
Dan DohertyCenter for Integrative Brain Research, Seattle Children's Research Institute
Brian P BrooksNational Eye Institute, National Institutes of Health
Theo HellerNational Institute of Diabetes and Digestive and Kidney Diseases
Theo HellerNational Institute of Diabetes and Digestive and Kidney Diseases
Ariane SoldatosNational Institutes of Health
James C MullikinNational Human Genome Research Institute, National Institutes of Health
James C MullikinNational Human Genome Research Institute, National Institutes of Health
May Christine V MalicdanNational Human Genome Research Institute, National Institutes of Health
May Christine V MalicdanNational Institutes of Health
May Christine V MalicdanNational Human Genome Research Institute, National Institutes of Health
May Christine V MalicdanNational Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
William A GahlNational Institutes of Health
William A GahlOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
William A GahlNational Institutes of Health
William A GahlOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
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