Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

Nicole J. Boczek, Katharina Hopp, Lacey Benoit, Daniel Kraft, Margot A. Cousin, Patrick R. Blackburn, Charles D. Madsen, Gavin R. Oliver, Asha A. Nair, Jie Na, Diana W. Bianchi, Geoffrey Beek, Peter C. Harris, Pavel Pichurin, Eric W. Klee

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Medicine & Life Sciences