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A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant

Crossref DOI link: https://doi.org/10.1038/s41525-025-00514-3

Published Online: 2025-10-10

Update policy: https://doi.org/10.1007/springer_crossmark_policy

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