Enlarged vestibular aqueduct is an autossomal recessive malformation of the inner ear. It is caused by mutations of the FOXI1 gene.
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Park HJ et al. (2005) Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. |
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Chattaraj P et al. (2017) A common -linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct. |
3. |
Arcand P et al. (1991) The large vestibular aqueduct syndrome and sensorineural hearing loss in the pediatric population. |
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Pourová R et al. (2010) Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). |
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Choi BY et al. (2009) Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. |
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Abe S et al. (1999) Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. |
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Abe S et al. (1997) Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct. |
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Griffith AJ et al. (1996) Familial large vestibular aqueduct syndrome. |
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Fukushima K et al. (1995) Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. |
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Belenky WM et al. (1993) The enlarged vestibular aqueduct syndrome (EVA syndrome). |
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Okumura T et al. (1995) Sensorineural hearing loss in patients with large vestibular aqueduct. |
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None (1983) The large vestibular aqueduct and associated anomalies of the inner ear. |
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Levenson MJ et al. (1989) The large vestibular aqueduct syndrome in children. A review of 12 cases and the description of a new clinical entity. |
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Jackler RK et al. (1989) The large vestibular aqueduct syndrome. |
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Yang T et al. (2007) Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). |
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Yang T et al. (2009) Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. |
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Wang QJ et al. (2007) A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. |
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Hu H et al. (2007) Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. |
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Albert S et al. (2006) SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. |
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Campbell C et al. (2001) Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. |
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Scott DA et al. (2000) Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). |
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Usami S et al. (1999) Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. |
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Li XC et al. (1998) A mutation in PDS causes non-syndromic recessive deafness. |
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Everett LA et al. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). |
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Baldwin CT et al. (1995) Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. |