Associated Papers
Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.
Cabrita Pinto RL et al.
Genes, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Barroso-Gil M et al.
Molecular Genetics & Genomic Medicine, 2021
33486889 (PubMed )
Supplement: MGG3-9-e1603-s001.docx
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.
Lam Z et al.
Clinical Dysmorphology, 2020
[Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations].
Su Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
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