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Article

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.

Journal of human genetics - 1 Jan 2006

Charfeddine Cherine, Mokni Mourad, Kassar Selma, Zribi Hela, Bouchlaka Chiraz, Boubaker Samir, Rebai Ahmed, Ben Osman Amel, Abdelhak Sonia

Abstract excerpt

Transgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and feet. The disease is distributed worldwide and includes the Mediterranean population. The gene responsible for MDM, ARS (component B) mapped on chromosome 8qter, encodes for the SLURP-1 protein (Ly-6/uPAR...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 16865292
DOI: 10.1007/s10038-006-0002-8

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