Article
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Human molecular genetics - 1 Apr 2002
Hamada Takahiro, McLean W H Irwin, Ramsay Michele, Ashton Gabrielle H S, Nanda Arti, Jenkins Trefor, Edelstein Isobel, South Andrew P, Bleck Oliver, Wessagowit Vesarat, Mallipeddi Rajeev, Orchard Guy E, Wan Hong, Dopping-Hepenstal Patricia J C, Mellerio Jemima E, Whittock Neil V, Munro Colin S, van Steensel Maurice A M, Steijlen Peter M, Ni Jian, Zhang Lurong, Hashimoto Takashi, Eady Robin A J, McGrath John A
Abstract excerpt
Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease (OMIM 247100) is a rare, autosomal recessive disorder typified by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration le...
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