Ophthalmological findings in Joubert syndrome

Eye

Volumn 24, Issue 2, 2010, Pages 222-225

  Sturm, V ^a,b   Leiba, H ^a,c   Menke, M N ^a   Valente, E M ^d   Poretti, A ^e   Landau, K ^a   Boltshauser, E ^e  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c KAPLAN MEDICAL CENTER   (Israel)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Abnormal eye movements; Cerebellar vermis hypoplasia; Joubert syndrome; Optic disc drusen; Retinal dystrophy

Indexed keywords

PROTEIN; PROTEIN AHI 1; PROTEIN CEP 290; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; APRAXIA; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; DRUSEN; EYE EXAMINATION; EYE MOVEMENT DISORDER; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JOUBERT SYNDROME; MALE; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; OPTIC DISK; RETINA DYSTROPHY; RETROSPECTIVE STUDY; SACCADIC EYE MOVEMENT; SCHOOL CHILD; SMOOTH PURSUIT EYE MOVEMENT; VESTIBULOOCULAR REFLEX;

EID: 77049100274     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2009.116     Document Type: Article

References (12)

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