@article{47e5660610524cb89b2b936eea69eb80,
title = "A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome",
abstract = "Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder, caused by heterozygous missense mutation in GJB2, encoding the gap junction protein connexin 26. The commonest mutation is the p.Asp50Asn mutation, and only a few other mutations have been described to date.",
author = "Uffe Koppelhus and L Tranebjaerg and Gitte Esberg and M Ramsing and Marianne Lodahl and Rendtorff, {Nanna Dahl} and Olesen, {H V} and Mette Sommerlund",
note = "{\textcopyright} The Author(s). CED {\textcopyright} 2010 British Association of Dermatologists.",
year = "2011",
month = mar,
day = "1",
doi = "10.1111/j.1365-2230.2010.03936.x",
language = "English",
volume = "36",
pages = "142--8",
journal = "Clinical and Experimental Dermatology",
issn = "0307-6938",
publisher = "Wiley-Blackwell Publishing Ltd",
number = "2",
}