Palmoplantar keratosis with deafness

Synonym(s)

MIM 148350

Uyguner O., 2002

Uyguner O et al (2002) The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. Clin Genet 62:306-309.

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Microbiology

Acronym for International Committee on Taxonomy of Viruses. This committee has developed a classification o...

Dermatology

Rare, solitary hemangioma occurring at any age (preferably in adolescence) with a characteristic, shooting-...

Dermatology

In a broader sense, skin/mucosa pigmentation refers to the storage of pigments (pigmentum = colour, dye) in...

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Dermatology

Clinical term for mostly circumscribed, sharply or blurredly defined, white foci of the mucosa which are pa...

Connexine;

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer