Article
Novel TGM5 mutations in acral peeling skin syndrome.
Experimental dermatology - 1 Apr 2015
van der Velden Jaap J A J, van Geel Michel, Nellen Ruud G L, Jonkman Marcel F, McGrath John A, Nanda Arti, Sprecher Eli, van Steensel Maurice A M, McLean W H Irwin, Cassidy Andrew J
Abstract excerpt
Acral peeling skin syndrome (APSS, MIM #609796) is a rare autosomal recessive disorder characterized by superficial exfoliation and blistering of the volar and dorsal aspects of hands and feet. The level of separation is at the junction of the stratum granulosum and stratum corneum. APSS is caused by mutations in the TGM5 gene encoding transglutaminase-5, which is important for structural integrity of the...
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