Associated Papers
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E et al.
Molecular Medicine (cambridge, Mass.), 2025
40121402 (PubMed )
Supplement: 10020_2025_1159_MOESM2_ESM.docx
Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation.
Bernardinelli E et al.
Frontiers in Molecular Neuroscience, 2022
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