Joubert syndrome: genotyping a Northern European patient cohort
Joubert syndrome: genotyping a Northern European patient cohort
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Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with >20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of disease progression and genetic counseling. We developed a targeted next-generation sequencing (NGS) appro...
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Full title
Joubert syndrome: genotyping a Northern European patient cohort
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4717206
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4717206
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2015.84
