Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. (Q50455675)

14 March 2018

title

Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. (English)

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genotype-phenotype correlation

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Hiroaki Suzuki

1

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Aki Oshima

2

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Koji Tsukamoto

3

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14 March 2018

Satoko Abe

4

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14 March 2018

Kozo Kumakawa

5

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Kyoko Nagai

6

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Hitoshi Satoh

7

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Yukihiko Kanda

8

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Satoshi Iwasaki

9

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Shin-ichi Usami

10

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language of work or name

English

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publication date

1 December 2007

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14 March 2018

number of pages

6

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based on heuristic

inferred from page(s)

published in

Acta Oto-Laryngologica

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14 March 2018

volume

127

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issue

12

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page(s)

1292-1297

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14 March 2018

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

cites work

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https://api.crossref.org/works/10.1080%2F00016480701258739

A mutation in PDS causes non-syndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480701258739

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480701258739

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480701258739

Two frequent missense mutations in Pendred syndrome

21 January 2018

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https://api.crossref.org/works/10.1080%2F00016480701258739

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00016480701258739

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

21 January 2018

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https://api.crossref.org/works/10.1080%2F00016480701258739

Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene

21 January 2018

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https://api.crossref.org/works/10.1080%2F00016480701258739

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans

21 January 2018

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https://api.crossref.org/works/10.1080%2F00016480701258739

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

21 January 2018

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https://api.crossref.org/works/10.1080%2F00016480701258739

Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes.

21 January 2018

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Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

21 January 2018

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Long-term audiological feature in Pendred syndrome caused by PDS mutation

21 January 2018

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Fluctuant, progressive hearing loss associated with Menière like vertigo in three patients with the Pendred syndrome.

21 January 2018

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Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.

21 January 2018

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Phenotypic manifestations of branchio-oto-renal syndrome.

21 January 2018

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Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

21 January 2018

1 reference

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Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.

21 January 2018

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Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

21 January 2018

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10.1080/00016480701258739

21 January 2018

Identifiers

DOI

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14 March 2018

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14 March 2018