Associated Papers
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.
Sentell ZT et al.
Human Molecular Genetics, 2025
39690811 (PubMed )
Supplement: supplementary_materials_hmg_rev_2024-11-23_clean_ddae182.docx
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
Boczek NJ et al.
European Journal of Human Genetics : Ejhg, 2018
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL et al.
Journal of Medical Genetics, 2017
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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