A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.
until further notice
SourceJournal of Investigative Dermatology, 118, 4, (2002), pp. 724-727
Article / Letter to editor
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Journal of Investigative Dermatology
SubjectEpidermal differentiation and cutaneous inflammation; Epidermale differentiatie en cutane ontstekingsprocessen
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.
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