Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2010-2-11
pubmed:abstractText
Joubert syndrome (JS) is an autosomal-recessive inherited complex malformation of the midbrain-hindbrain. It has been associated with ocular and oculomotor abnormalities. The aim of our study was to extend the ophthalmic knowledge in JS and to add new findings.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1476-5454
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
222-5
pubmed:meshHeading
pubmed-meshheading:19461662-Adolescent, pubmed-meshheading:19461662-Adult, pubmed-meshheading:19461662-Cerebellar Diseases, pubmed-meshheading:19461662-Child, pubmed-meshheading:19461662-DNA Mutational Analysis, pubmed-meshheading:19461662-Eye Abnormalities, pubmed-meshheading:19461662-Female, pubmed-meshheading:19461662-Genotype, pubmed-meshheading:19461662-Humans, pubmed-meshheading:19461662-Kidney Diseases, Cystic, pubmed-meshheading:19461662-Male, pubmed-meshheading:19461662-Ocular Motility Disorders, pubmed-meshheading:19461662-Optic Disk Drusen, pubmed-meshheading:19461662-Retina, pubmed-meshheading:19461662-Retinal Pigment Epithelium, pubmed-meshheading:19461662-Retrospective Studies, pubmed-meshheading:19461662-Saccades, pubmed-meshheading:19461662-Visual Acuity, pubmed-meshheading:19461662-Young Adult
pubmed:year
2010
pubmed:articleTitle
Ophthalmological findings in Joubert syndrome.
pubmed:affiliation
Department of Ophthalmology, University Hospital of Zurich, Zurich, Switzerland. veit_sturm@yahoo.com
pubmed:publicationType
Journal Article