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Author

S. Dastgheib

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Case report Open access Aug 2026

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss

A novel likely pathogenic variant in the LOXHD1 gene, c.3713dupA (p.Asp1238Glufs*10), was identified and enhances the comprehension of the genetic underpinnings of hearing loss and may aid in molecular diagnostics and genetic counseling for impacted families.

Solmaz Hassani Fard Katiraei, Milad Gholami, Mohsen Soosanabadi 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