Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda

Br J Dermatol. 2009 Apr;160(4):878-80. doi: 10.1111/j.1365-2133.2008.08980.x. Epub 2008 Dec 15.

Authors

R G L Nellen¹, M van Geel, P M Steijlen, M A M van Steensel

Affiliation

¹ Department of Dermatology, University Hospital Maastricht, and GROW Research School, University of Maastricht, PO Box 5800, 6202 AZ Maastricht, the Netherlands. rnel@sder.azm.nl

PMID: 19120323
DOI: 10.1111/j.1365-2133.2008.08980.x

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Antigens, Ly / genetics*
Genetic Carrier Screening
Genotype
Humans
Keratoderma, Palmoplantar / genetics*
Male
Mutation / genetics*
Odorants
Pedigree
Urokinase-Type Plasminogen Activator / genetics*

Substances

Antigens, Ly
SLURP1 protein, human
Urokinase-Type Plasminogen Activator