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bibliographicCitation Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. J Med Genet. 2012 Feb;49(2):126–37. doi: 10.1136/jmedgenet-2011-100552. PMID: 22241855.
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title Genotype–phenotype correlation inCC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
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