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Article

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

19 Jun 2015

Abstract excerpt

BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability and genetic heterogeneity. This study provides a comprehensive view of the current genetic basis, phenotypic range and...

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PMID: 26092869
DOI: 10.1136/jmedgenet-2015-103087

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