Title: Olmsted syndrome: exploration of the immunological phenotype
Authors: Danso-Abeam, Dina *
Zhang, Jianguo *
Dooley, James *
Staats, Kim A
Van Eyck, Lien
Van Brussel, Thomas
Zaman, Shari
Hauben, Esther
Van De Velde, Marc
Morren, Marie-Anne
Renard, Marleen
Van Geet, Chris
Schaballie, Heidi
Lambrechts, Diether
Tao, Jinsheng
Franckaert, Dean
Humblet-Baron, Stephanie
Meyts, Isabelle #
Liston, Adrian # ×
Issue Date: 2013
Publisher: BioMed Central
Series Title: Orphanet Journal of Rare Diseases vol:8 issue:79
Article number: 10.1186/1750-1172-8-79
Abstract: Olmsted syndrome is a rare congenital skin disorder presenting with periorifical hyperkeratotic lesions and mutilating palmoplantar keratoderma, which is often associated with infections of the keratotic area. A recent study identified de novo mutations causing constitutive activation of TRPV3 as a cause of the keratotic manifestations of Olmsted syndrome.
ISSN: 1750-1172
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Genetics of Autoimmunity
* (joint) first author
× corresponding author
# (joint) last author

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