Article
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
Journal of medical genetics - 1 Feb 2012
Bachmann-Gagescu Ruxandra, Ishak Gisele E, Dempsey Jennifer C, Adkins Jonathan, O'Day Diana, Phelps Ian G, Gunay-Aygun Meral, Kline Antonie D, Szczaluba Krzysztof, Martorell Loreto, Alswaid Abdulrahman, Alrasheed Shatha, Pai Shashidhar, Izatt Louise, Ronan Anne, Parisi Melissa A, Mefford Heather, Glass Ian, Doherty Dan
Abstract excerpt
BACKGROUND: Joubert syndrome (JS) is a ciliopathy characterised by a distinctive brain malformation (the 'molar tooth sign'), developmental delay, abnormal eye movements and abnormal breathing pattern. Retinal dystrophy, cystic kidney disease, liver fibrosis and polydactyly are variably present, resulting in significant phenotypic heterogeneity and overlap with other ciliopathies. JS is also genetically...
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