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Analysis between phenotypes and genotypes of inner ear malformation

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Pages 223-232 | Received 20 Sep 2018, Accepted 26 Nov 2018, Published online: 14 Feb 2019

References

  • Mafong DD, Shin EJ, Lalwani AK. Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss. Laryngoscope. 2002;112:1–7.
  • Zhou G, Gopen Q, Kenna MA. Delineating the hearing loss in children with enlarged vestibular aqueduct. Laryngoscope. 2008;118:2062–2066.
  • Ito T, Choi BY, King KA, et al. SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem. 2011;28:545–555.
  • Du W, Guo Y, Wang C, et al. A systematic review and meta-analysis of common mutations of SLC26A4 gene in Asian populations. Int J Pediatr Otorhinolaryngol. 2013;77:1670–1676.
  • Lee HJ, Jung J, Shin JW, et al. Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. Clin Genet. 2014;86:270–275.
  • Rendtorff ND, Schrijver I, Lodahl M, et al. SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. Clin Genet. 2013;84:388–391.
  • Madden C, Halsted M, Benton C, et al. Enlarged vestibular aqueduct syndrome in the pediatric population. Otol Neurotol. 2003;24:625–632.
  • Zhang SZ, Wu ZM, Zhao CJ. Clinical analysis of large vestibular water pipe syndrome. Chinese J Ear Sci. 2004;2:11–15.
  • Manzari L. Enlarged vestibular aqueduct (EVA) related with recurrent benign paroxysmal positional vertigo (BPPV). Med Hypotheses. 2008; 70:61–65.
  • Arjmand EM, Webber A. Audiometric findings in children with a large vestibular aqueduct. Arch Otolaryngol Head Neck Surg. 2004;130:1169–1174.
  • Emmtett JR. The large vestibular aqueduct syndrome. Am J Otolaryngol. 1985;6:387–415.
  • Nong DX, Ura M, Owa T, et al. An acoustically evoked short latency negative response in profound hearing loss patients. Acta Otolaryngol. 2000;120:960–966.
  • Liu L, Yang B. Acoustically evoked short latency negative responses in hearing loss patients with enlarged vestibular aqueduct. Acta Neurol Belg. 2013;113:157–160.
  • Lee KH, Lee J, Isaacson B, et al. Cochlear implantation in children with enlarged vestibular aqueduct. The Laryngoscope. 2010;120:168–675.
  • Yuan YY, Wang JG, Huang DL, et al. Screening strategies for SLC26A4 gene hot spot mutation regions in patients with enlarged vestibular aqueduct in China. Chinese J Otol. 2010;08:292–295.
  • Pryor SP, Madeo AC, Reynolds JC, et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet. 2005;42:159–165.
  • Park H, Lee S, Jin H, et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet. 2005;67:160–165.
  • Buchman CA, Dillon MT, King ER, et al. Influence of cochlear implant insertion depth on performance: a prospective randomized trial. Otol Neurotol. 2014;35:1773–1779.
  • Jonard L, Niasme-Grare M, Bonnet C, et al. Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol. 2010;74:1049–1053.
  • Huang S, Han D, Wang G, et al. Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes. Int J Pediatr Otorhinolaryngol. 2013;77:379–383.

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