Article
A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.
Clinical and experimental dermatology - 1 Mar 2011
Koppelhus U, Tranebjaerg L, Esberg G, Ramsing M, Lodahl M, Rendtorff N D, Olesen H V, Sommerlund M
Abstract excerpt
BACKGROUND: 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. AIM: To report the fatal clinical course and characterize the genetic background of a premature male neonate...
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