1 results match your criteria: "Max Delbrück Centre Moecular Medicine[Affiliation]"
Hum Genet
January 2003
Gene Mapping Centre and Department of Molecular Genetics, Max Delbrück Centre Moecular Medicine, Berlin, Germany.
Mal de Meleda (MDM) or keratosis palmoplantaris transgrediens of Siemens is an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma (PPK) and transgressive keratosis with an onset in early infancy. There is no associated involvement of other organs; however, a spectrum of clinical presentations with optional and variable features has been described. Mutations in the ARS (component B)-81/s gene ( LY6LS) on chromosome 8q24-qter, which encodes SLURP-1, have recently been identified in patients with MDM.
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