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

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Cite this article as:
Bachmann-Gagescu R, Ishak GE, Dempsey JC, et al
Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures