Article
Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis.
The Journal of investigative dermatology - 1 Aug 2006
Sandilands Aileen, O'Regan Gráinne M, Liao Haihui, Zhao Yiwei, Terron-Kwiatkowski Ana, Watson Rosemarie M, Cassidy Andrew J, Goudie David R, Smith Frances J D, McLean W H Irwin, Irvine Alan D
Abstract excerpt
Mutations in the filament aggregating protein (filaggrin) gene have recently been identified as the cause of the common genetic skin disorder ichthyosis vulgaris (IV), the most prevalent inherited disorder of keratinization. The main characteristics of IV are fine-scale on the arms and legs, palmar hyperlinearity, and keratosis pilaris. Here, we have studied six Irish families with IV for mutations in filaggrin....
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