De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome (Q58682399)

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17 December 2019

title

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome (English)

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17 December 2019

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2

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17 December 2019

Alejandra Pera

3

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17 December 2019

Manuela Villamar

4

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17 December 2019

author name string

Felipe Moreno

6

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17 December 2019

Ramón Moreno

7

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17 December 2019

Araceli Alvarez

1

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17 December 2019

Miguel A Moreno-Pelayo

5

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17 December 2019

M Cruz Tapia

8

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17 December 2019

language of work or name

English

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publication date

1 February 2003

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American Journal of Medical Genetics

17 December 2019

published in

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17 December 2019

volume

117A

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17 December 2019

issue

1

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17 December 2019

page(s)

89-91

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Connexins, connexons, and intercellular communication

17 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10851

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/10.1002%2FAJMG.A.10851

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10851

Connexin mutations in skin disease and hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10851

The gap junction communication channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10851

Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10851

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/10.1002%2FAJMG.A.10851

Connexins: a connection with the skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10851

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/10.1002%2FAJMG.A.10851

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10851

A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10851

Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10851

Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10851

The KID-syndrome in Finland. A report of four cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10851

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.10851

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17 December 2019

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