Review
Open access
Aug 2026
Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome
This study expands the mutational landscape of JS in the Iranian population and underscores the utility of WES as a first-tier diagnostic tool for JS and related ciliopathies.
Sheyda Khalilian, Mohadeseh Fathi, Zahra Farbood et al.
· Molecular Genetics and Metab... · 0 citations