Associated Papers
CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.
Chen YJ et al.
Clinical Genetics, 2024
Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis.
Mustafa HJ et al.
American Journal of Obstetrics & Gynecology Mfm, 2023
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
Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.
Ruggeri G et al.
American Journal of Medical Genetics. Part A, 2018
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S11.xls › Supp_Table_11
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.
Drielsma A et al.
Journal of Medical Genetics, 2012
Select a paper to view details