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Author

Zahra Farbood

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Review Open access Sep 2026

A comprehensive overview of genetic mutations in Iranian patients with Bardet-Biedl syndrome

Background Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by pleiotropic clinical manifestations including retinal degeneration, obesity, polydactyly, intellectual disability, renal abnormalities, and hypogenitalism. Significant genetic heterogeneity exists, with over 20 genes impli...

Sheyda Khalilian, Mohadeseh Fathi, Mona Entezam et al. · 0 citations
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. · 0 citations

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