Associated Papers
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
Boczek NJ et al.
European Journal of Human Genetics : Ejhg, 2018
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.
Cortés CR et al.
Scientific Reports, 2016
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
Thauvin-Robinet C et al.
Nature Genetics, 2014
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