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Paper Details

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Ophthalmology
37
2018
AHI1, CEP290, Hepatorenal Disease, INPP5E, JS, Joubert Syndrome, Joubert syndrome, MKS1, NPHP1, PARTICIPANTS, Patients, Retinal degeneration, Strabismus, coloboma, nystagmus, oculomotor apraxia, optic nerve atrophy, patients, primary (nonmotile) cilia, ptosis, retinal degeneration
Author NameAffiliation
Brian P BrooksNational Eye Institute, National Institutes of Health, Maryland National Human Genome Research Institute, Maryland Office of the Clinical Director
Dan DohertyUniversity of Washington, Washington Center for Integrative Brain Research, Seattle Children's Research Institute
May Christine V MalicdanNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, Maryland Office of the Clinical Director, National Human Genome Research Institute
May Christine V MalicdanNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, Maryland Office of the Clinical Director, National Human Genome Research Institute
James C MullikinNational Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health
James C MullikinNational Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health
William A GahlNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, Maryland Office of the Clinical Director, National Human Genome Research Institute
William A GahlNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, Maryland Office of the Clinical Director, National Human Genome Research Institute
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