Analysis between phenotypes and genotypes of inner ear malformation.

CONCLUSIONS: 1. EVA patients with severe sensorineural hearing loss were always diagnosed in childhood and Cochlear implantation was feasible for these patients with the bilateral hearing loss. 2. SLC26A4 gene was closely related to EVA. 3. GJB2 and mtDNA genes were not responsible for EVA. SIGNIFICANCE: The relationship between genotype and clinical phenotype provides a theoretical basis for future gene diagnosis and prevention and treatment of LVAS. PMID: 30762457 [PubMed - as supplied by publisher] (Source: Acta Oto-Laryngologica)

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