Associated Papers
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.
Jean MM et al.
Npj Genomic Medicine, 2025
Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene.
Parrini E et al.
American Journal of Medical Genetics. Part A, 2025
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
Mann N et al.
Journal of the American Society of Nephrology : Jasn, 2019
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Failler M et al.
American Journal of Human Genetics, 2014
Select a paper to view details