A rare connexin 26 mutation in a patient with aforme frusteof keratitis-ichthyosis-deafness (KID) syndrome
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-4632.2009.04136.x/fullpdf
Reference19 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. Keratitis, ichthyosis and deafness (KID syndrome): review of the literature and proposal of a new terminology;Caceres-Rios;Paediatr Dermatol,1996
3. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome;Richard;Am J Hum Genet,2002
4. Connexin gene pathology;Richard;Exp Dermatol,2003
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3. Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg;Acta Dermato Venereologica;2019
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