We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Novel mutations in DSG1 causing striate palmoplantar keratoderma.
- Authors
Hershkovitz, D.; Lugassy, J.; Indelman, M.; Bergman, R.; Sprecher, E.
- Abstract
Background. Striate palmoplantar keratoderma (SPPK) has been shown to be caused by mutations in at least three genes: DSG1, DSP and KRT1. Methods. Three families with nine affected members were assessed using a candidate gene-based screening approach. Results. In all three families, new heterozygous mutations were found in DSG1. Conclusion. Direct sequencing of cDNA derived from affected skin in one patient failed to reveal a pathogenic mutation, suggesting that SPPK results from haploinsufficiency for DSG1.
- Publication
Clinical & Experimental Dermatology, 2009, Vol 34, Issue 2, p224
- ISSN
0307-6938
- Publication type
Academic Journal
- DOI
10.1111/j.1365-2230.2008.02733.x