Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

Ruxandra Bachmann-Gagescu, Gisele E. Ishak, Jennifer C. Dempsey, Jonathan Adkins, Diana O'Day, Ian G. Phelps, Meral Gunay-Aygun, Antonie D. Kline, Krzysztof Szczaluba, Loreto Martorell, Abdulrahman Alswaid, Shatha Alrasheed, Shashidhar Pai, Louise Izatt, Anne Ronan, Melissa A. Parisi, Heather Mefford, Ian Glass, Dan Doherty

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Medicine & Life Sciences