Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.
Chen YJ et al.
Clinical Genetics, 2024
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
Marguet F et al.
Acta Neuropathologica Communications, 2021
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.
Wallis M et al.
European Journal of Medical Genetics, 2018
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