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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: BMC 2026-04-01
Schriftenreihe:Human Genomics
Schlagworte:
Joubert Syndrome
JSRD
Ciliopathy
KIF7
CEP104
TMEM237
Online-Zugang:https://doi.org/10.1186/s40246-026-00953-8
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