A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2230.2010.03936.x/fullpdf
Reference25 articles.
1. A case of generalized keratoderma with unusual involvement of the eyes and nasal and buccal mucous membranes;Burns;J Cutan Dis,1915
2. The keratitis, ichthyosis, and deafness (KID) syndrome;Skinner;Arch Dermatol,1981
3. Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology;Caceres-Rios;Pediatr Dermatol,1996
4. Keratitis-ichthyosis-deafness (KID) syndrome;Gonzalez;Dermatol Online J,2009
5. Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss;Kelly;Int J Dermatol,2008
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