Autosomal recessive deafness 4 with enlarged vestibular aqueduct

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.

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).

Choi BY et al. (2009) Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Abe S et al. (1999) Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.

Abe S et al. (1997) Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct.

Griffith AJ et al. (1996) Familial large vestibular aqueduct syndrome.

Fukushima K et al. (1995) Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.

Belenky WM et al. (1993) The enlarged vestibular aqueduct syndrome (EVA syndrome).

Okumura T et al. (1995) Sensorineural hearing loss in patients with large vestibular aqueduct.

None (1983) The large vestibular aqueduct and associated anomalies of the inner ear.

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.

Jackler RK et al. (1989) The large vestibular aqueduct syndrome.

Yang T et al. (2009) Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

Wang QJ et al. (2007) A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.

Hu H et al. (2007) Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

Albert S et al. (2006) SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

Pryor SP et al. (2005) 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.

Tsukamoto K et al. (2003) Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

Campbell C et al. (2001) Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

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).

Usami S et al. (1999) Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

Li XC et al. (1998) A mutation in PDS causes non-syndromic recessive deafness.

Everett LA et al. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

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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