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
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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