Suzanne de Bruijn

263 Exploring the missing heritability in subjects with hearing loss and EVA 87. Archibald, H.D., Ascha, M., Gupta, A., Megerian, C. & Otteson, T. Hearing loss in unilateral and bilateral enlarged vestibular aqueduct syndrome. International Journal of Pediatric Otorhinolaryngology 118 , 147-151 (2019). 88. Ascha, M.S., Manzoor, N., Gupta, A., Semaan, M., Megerian, C. & Otteson, T.D. Vestibular aqueduct midpoint width and hearing loss in patients with an enlarged vestibular aqueduct. JAMA Otolaryngology – Head & Neck Surgery 143 , 601-608 (2017). 89. Saeed, H.S., Kenth, J., Black, G., Saeed, S.R., Stivaros, S. & Bruce, I.A. Hearing loss in enlarged vestibular aqueduct: a prognostic factor systematic review of the literature. Otology & Neurotology 42 , 99-107 (2021). 90. Rah, Y.C., Kim, A.R., Koo, J.-W., Lee, J.H., Oh, S.-h. & Choi, B.Y. Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes. The Laryngoscope 125 , e216-e222 (2015). 91. Miyagawa, M., Nishio, S.-y., Usami, S.-i. &The Deafness Gene Study, C. Mutation spectrum and genotype–phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. Journal of Human Genetics 59 , 262-268 (2014). 92. Song, M.H., Shin, J.-W., Park, H.-J., Lee, K.-A., Kim, Y., Kim, U.-K. et al. Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations. The Laryngoscope 124 , e194-e202 (2014). 93. Kim, M.-A., Kim, S.H., Ryu, N., Ma, J.-H., Kim, Y.-R., Jung, J. et al. Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing. Theranostics 9 , 7184-7199 (2019).

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