Associated Papers
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
Kalayci T et al.
American Journal of Medical Genetics. Part A, 2023
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
Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.
Tyc KM et al.
Human Reproduction (oxford, England), 2020
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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