Acral Peeling Skin Syndrome Resulting from a Homozygous Nonsense Mutation in theCSTAGene Encoding Cystatin A
Author:
Affiliation:
1. Department of Dermatology; College of Medicine; University of Illinois; Chicago; Illinois
2. Department of Medical Genetics; King's College London; London; UK
3. St John's Institute of Dermatology; King's College London (Guy's Campus); London; UK
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12092/fullpdf
Reference5 articles.
1. Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder;Pavlovic;Pediatr Dermatol,2012
2. A homozygous missense mutation in TGM5 abolishes transglutaminase 5 activity and causes acral peeling skin syndrome;Cassidy;Am J Hum Genet,2005
3. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unravelling the peeling skin disease;Oji;Am J Hum Genet,2010
4. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss;Simpson;Nat Genet,2011
5. Mutations in CSTA, encoding cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion;Blaydon;Am J Hum Genet,2011
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