Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders
Abstract Background Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies caused by pathogenic variants in over 40 genes, mainly encoding ciliary proteins. However, data on JSRD in the Saudi population remain limited. This study aimed to identify nov...
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| Główni autorzy: | , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMC
2026-04-01
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| Seria: | Human Genomics |
| Hasła przedmiotowe: | |
| Dostęp online: | https://doi.org/10.1186/s40246-026-00953-8 |
| Etykiety: |
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