Article
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
The British journal of dermatology - 1 May 2007
Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man S Y K, Bodemer C, Prins C, Antille C, Saurat J-H, Atherton D, Harper J I, Kelsell D P, Hovnanian A
Abstract excerpt
BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by the association of skin lesions, hearing loss and vascularizing keratitis. KID syndrome is caused by autosomal dominant mutations in the connexin 26 gene (GJB2). OBJECTIVES: To establish whether there is a correlation between genotype and phenotype in KID syndrome. METHODS: Clinical examination and molecular...
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