A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.

Gruber, Robert

A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype. [electronic resource] - Archives of dermatology Jun 2011 - 748-50 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

1538-3652

10.1001/archdermatol.2011.138 doi


Acitretin--therapeutic use
Adult
Anti-Infective Agents--therapeutic use
Antigens, Ly--genetics
Biopsy
Homozygote
Humans
Keratoderma, Palmoplantar--diagnosis
Keratolytic Agents--therapeutic use
Male
Mutation, Missense
Phenotype
Urokinase-Type Plasminogen Activator--genetics