Article
Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant.
Clinical and experimental dermatology - 1 Mar 2005
Lee J Y-Y, Tsai Y-M, Chao S-C, Tu Y-F
Abstract excerpt
Infantile systemic hyalinosis (ISH) is a very rare infantile stiff-skin syndrome characterized by extensive deposits of hyaline material in various organs, especially the skin and gingiva. Recent studies identified pathogenic mutations in the capillary morphogenesis gene 2 (CMG2) in both ISH and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.