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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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Principais autores: Riman Alafghani, Deema Aljeaid, Noor Ahmad Shaik, Babajan Banaganapalli, Ramu Elango, Ghayah Khard, Wisam Habab, Ghada Jadkarim, Dalal Sameer Alshaer, Mahmoud Almutadares, Nuha Mohammad Alrayes, Noha M. Issa
格式: Artigo
語言:Inglês
出版: BMC 2026-04-01
叢編:Human Genomics
主題:
Joubert Syndrome
JSRD
Ciliopathy
KIF7
CEP104
TMEM237
在線閱讀:https://doi.org/10.1186/s40246-026-00953-8
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