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
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
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