title: A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.
authors.forename: Robert
authors.initials: R
authors.lastname: Gruber
authors.forename: Hans C
authors.initials: HC
authors.lastname: Hennies
authors.forename: Nikolaus
authors.initials: N
authors.lastname: Romani
authors.forename: Matthias
authors.initials: M
authors.lastname: Schmuth
mesh_terms: D017255:Acitretin / Q000627:therapeutic use; D000328:Adult; D000890:Anti-Infective Agents / Q000627:therapeutic use; D000950:Antigens, Ly / Q000235:genetics*; D001706:Biopsy; D006720:Homozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D007641:Keratolytic Agents / Q000627:therapeutic use; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics*
chemical_list: D000890:Anti-Infective Agents; D000950:Antigens, Ly; D007641:Keratolytic Agents; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator; D017255:Acitretin