Keratoderma palmoplantar deafness

Common Name(s)

Keratoderma palmoplantar deafness

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Keratoderma palmoplantar deafness" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Keratoderma palmoplantar deafness" returned 4 free, full-text research articles on human participants. First 3 results:

Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
 

Author(s): Jae Yeol Lee, Sung-Il In, Hyon J Kim, Seon-Yong Jeong, Yun Hoon Choung, You Chan Kim

Journal: J. Korean Med. Sci.. 2010 Oct;25(10):1539-42.

 

Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or ...

Last Updated: 4 Oct 2010

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A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
 

Author(s): Eugene A de Zwart-Storm, Michel van Geel, Pierre A F A van Neer, Peter M Steijlen, Patricia E Martin, Maurice A M van Steensel

Journal: Am. J. Pathol.. 2008 Oct;173(4):1113-9.

 

Gap junctions, which consist of connexins, are intercellular channels that mediate rapid intercellular communication. In the skin, connexins are involved in the regulation of epidermal growth and differentiation. GJB2 encodes connexin26, which is an important skin-expressed gap junction ...

Last Updated: 25 Sep 2008

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

Author(s): D P Kelsell, A L Wilgoss, G Richard, H P Stevens, C S Munro, I M Leigh

Journal: Eur. J. Hum. Genet.. 2000 Jun;8(6):469-72.

 

Recently, mutations in two gap junction genes, GJB2 and GJB3 (encoding Connexin 26 and Connexin 31, respectively), have been shown to underlie either inherited hearing loss and skin disease or both disorders. In this study, we have extended our analysis of a small family in which ...

Last Updated: 16 Oct 2000

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Keratoderma palmoplantar deafness" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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