(Q44173488)

30 November 2017

title

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family (English)

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30 November 2017

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O Uyguner

1

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30 November 2017

T Tukel

2

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30 November 2017

C Baykal

3

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30 November 2017

H Eris

4

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30 November 2017

M Emiroglu

5

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30 November 2017

G Hafiz

6

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30 November 2017

A Ghanbari

7

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30 November 2017

N Baserer

8

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30 November 2017

M Yuksel-Apak

9

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30 November 2017

B Wollnik

10

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30 November 2017

publication date

1 October 2002

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30 November 2017

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30 November 2017

volume

62

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30 November 2017

issue

4

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30 November 2017

page(s)

306-309

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Vohwinkel's syndrome and deafness

30 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

Connexin mutations in skin disease and hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

The palmoplantar keratodermas: much more than palms and soles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

Connexins, connexons, and intercellular communication

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

Diverse functions of vertebrate gap junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

Connexin 26 gene linked to a dominant deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620409.X

10.1034/J.1399-0004.2002.620409.X

21 January 2018

Identifiers

DOI

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30 November 2017

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