Article
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
Experimental dermatology - 1 Nov 2007
Chan Ien, Liu Lu, Hamada Takahiro, Sethuraman Gomathy, McGrath John A
Abstract excerpt
Lipoid proteinosis (OMIM 247100), also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare autosomal recessive disorder characterized by generalized thickening and scarring of the skin and mucosae. In 2002, the disorder was mapped to a locus on chromosome 1q21 and pathogenic mutations were identified in the ECM1 gene, which encodes for the glycoprotein extracellular matrix protein 1 (ECM1)....
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