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Author

Milad Gholami

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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