A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome

Uffe Koppelhus, L Tranebjaerg, Gitte Esberg, M Ramsing, Marianne Lodahl, Nanna Dahl Rendtorff, H V Olesen, Mette Sommerlund

37 Citationer (Scopus)

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.
OriginalsprogEngelsk
TidsskriftClinical and Experimental Dermatology
Vol/bind36
Udgave nummer2
Sider (fra-til)142-8
Antal sider7
ISSN0307-6938
DOI
StatusUdgivet - 1 mar. 2011

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