Article
A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma.
The British journal of dermatology - 1 Sept 2008
Song S, Shen C, Song G, Mao X, Yan G, Wang X, Yan M, Zhong N
Abstract excerpt
BACKGROUND: Loricrin keratoderma (LK) is a group of congenital skin abnormalities characterized by the common features of honeycomb palmoplantar keratoderma and diffused ichthyosiform dermatosis. Earlier studies have shown that LK is associated with genetic defects of the loricrin gene. OBJECTIVES: To determine the correlation between a loricrin mutation and a heterogeneous phenotype of loricrin keratoderma....
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