Joubert Syndrome, A Ciliopathy
DOI:
https://doi.org/10.15844/pedneurbriefs-27-10-8Keywords:
CNS Defects, Heterogeneous Disorders, Prenatal Abnormal FeaturesAbstract
Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS development.Published
2013-10-01
Issue
Section
Developmental Disorders
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