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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Autors principals:	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
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2026-04-01
Col·lecció:	Human Genomics
Matèries:	Joubert Syndrome JSRD Ciliopathy KIF7 CEP104 TMEM237
Accés en línia:	https://doi.org/10.1186/s40246-026-00953-8
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