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Paper Details

Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Am J Med Genet C Semin Med Genet
1
2022
JS, Joubert syndrome, Macrocephaly, children, developmental delay, eye movement abnormalities, hypotonia, mandibular prognathia, neurodevelopmental disorder, nystagmus, oculomotor apraxia, patients, prominent nasal bridge, ptosis, strabismus
Author NameAffiliation
May Christine V MalicdanNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health
May Christine V MalicdanNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health
Brian P BrooksNational Eye Institute, National Institutes of Health
William A GahlNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
William A GahlNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
Camilo ToroNational Human Genome Research Institute, National Institutes of Health
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