GJB2mutations in keratitis-ichthyosis-deafness syndrome including its fatal form (Q57637012)

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7 January 2020

title

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form (English)

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7 January 2020

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author name string

Hans Christian Hennies

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7 January 2020

Barbara Günther

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7 January 2020

Gabriele Gansl

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7 January 2020

Josef Smolle

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7 January 2020

Gerd Utermann

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7 January 2020

Olaf Rittinger

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7 January 2020

Elisabeth M Messmer

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7 January 2020

language of work or name

English

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publication date

1 March 2005

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American Journal of Medical Genetics

7 January 2020

published in

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volume

133A

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issue

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page(s)

128-131

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Connexin 26 gene linked to a dominant deafness

7 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

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.30515

Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

Mutations in GJB6 cause hidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

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.30515

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.30515

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

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.30515

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

Structure of gap junction intercellular channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30515

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.30515

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15633193%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

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