Associated Papers
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
CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.
Chang CH et al.
Genes & Development, 2021
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
Tsai JJ et al.
Scientific Reports, 2019
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Roosing S et al.
Journal of Medical Genetics, 2016
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