Associated Papers
CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome.
Badv RS et al.
Molecular Biology Reports, 2022
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
Luo M et al.
Molecular Genetics & Genomic Medicine, 2019
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.
Frikstad KM et al.
Cell Reports, 2019
31412255 (PubMed )
Supplement: mmc1.pdf
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Srour M et al.
American Journal of Human Genetics, 2015
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