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

Keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis-ichthyosis-deafness syndrome is caused by a mutation in the connexin 26 gene. This finding expands the spectrum of disorders caused by defects in connexin 26 and implies the gene in normal corneal function, hair growth, and carcinogenesis.

• Publication year

  2002

• Venue

  Journal of Investigative Dermatology

• Publication date

  2002-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1046/J.1523-1747.2002.01735.XPMID 11918723
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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