Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct
Abstract Background The enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in the SLC26A4 gene, coding for the anion exchanger pendrin, are frequently involved in determining Pendred syndrome and nonsyndromic autosomal recessive hea...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
BMC
2025-03-01
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| Rangatū: | Molecular Medicine |
| Ngā marau: | |
| Urunga tuihono: | https://doi.org/10.1186/s10020-025-01159-9 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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