Lipoid Proteinosis of Urbach and Wiethe
MeSH code information
- ConceptScope note:An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.
- Tree numbers
Products linked with gene
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