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Autor:
Bakar Bouadjar, Jean-François Prud'homme, Caroline Lefèvre, Ana Bakija-Konsuo, Jean Weissenbach, Judith Fischer, Mark Lathrop, Farid Ait-Belkacem, Florence Jobard, Roland Heilig, Francoise Macari, Daniel Hohl, Marcel Huber
Publikováno v:
Human Molecular Genetics, vol. 10, no. 8, pp. 875-80
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Mal de Meleda (MDM) is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly and nail abnormalities. We report the refinement of our previousl