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rdf:type |
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|
lifeskim:mentions |
|
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pubmed:issue |
6
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pubmed:dateCreated |
2009-11-25
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pubmed:abstractText |
This report describes a 3-year-old Chinese-Italian boy with Joubert syndrome. Fundus examination showed bilateral optic disc coloboma. Left serous retinal detachment was also found. This ocular finding was not reported in the previous literature. Although Joubert syndrome has many variable phenotypes and the molecular basis is still unknown, the newly reported ocular features suggest that a different genetic form may be present.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:status |
MEDLINE
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|
pubmed:issn |
0191-3913
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2009, SLACK Incorporated.
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pubmed:issnType |
Print
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pubmed:volume |
46
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
362-4
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pubmed:meshHeading |
pubmed-meshheading:19928742-Cerebellar Ataxia,
pubmed-meshheading:19928742-Cerebellum,
pubmed-meshheading:19928742-Child, Preschool,
pubmed-meshheading:19928742-Diagnosis, Differential,
pubmed-meshheading:19928742-Humans,
pubmed-meshheading:19928742-Magnetic Resonance Imaging,
pubmed-meshheading:19928742-Male,
pubmed-meshheading:19928742-Muscle Hypotonia,
pubmed-meshheading:19928742-Psychomotor Disorders,
pubmed-meshheading:19928742-Retinal Detachment,
pubmed-meshheading:19928742-Retinoscopy,
pubmed-meshheading:19928742-Syndrome
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pubmed:articleTitle |
Serous retinal detachment in Joubert syndrome.
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|
pubmed:affiliation |
Hong Kong Eye Hospital, The Chinese University of Hong Kong, Kowloon, Hong Kong, The People's Republic of China.
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pubmed:publicationType |
Journal Article,
Case Reports
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