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...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
BMC
2026-04-01
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| Rangatū: | Human Genomics |
| Ngā marau: | |
| Urunga tuihono: | https://doi.org/10.1186/s40246-026-00953-8 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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