Article
SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.
The Journal of investigative dermatology - 1 Sept 2004
Raghunath Michael, Tontsidou Lambrini, Oji Vinzenz, Aufenvenne Karin, Schürmeyer-Horst Funda, Jayakumar Arumugam, Ständer Hartmut, Smolle Josef, Clayman Gary L, Traupe Heiko
Abstract excerpt
Netherton syndrome (NTS) is an autosomal recessive congenital ichthyosis featuring chronic inflammation of the skin, hair anomalies, epidermal hyperplasia with an impaired epidermal barrier function, failure to thrive and atopic manifestations. The disease is caused by mutations in the SPINK5 gene encoding the serine proteinase inhibitor lympho-epithelial Kazal-type inhibitor (LEKTI). Sequence analyses of SPINK5...
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