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PubMed · 11872406

Mal de Meleda without mutations in the ARS coding sequence.

Maurice A M van Steensel·Michel Van van Geel·Peter M Steijlen
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Abstract

Mal de Meleda (Mal de Mljet) is a recessive palmoplantar hyperkeratosis associated with hyperhidrosis, brachydactyly and sometimes pseudo-ainhum. It was recently discovered to be caused by mutations in the ARS gene on chromosome 8. Here we report a patient suffering from Mal de Meleda not associated with ARS mutations. The related E48 and GML genes were also excluded.

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Antigens, LyChildChromosomes, Human, Pair 8DNA Mutational AnalysisFemaleHumansKeratoderma, PalmoplantarMutationPolymerase Chain ReactionUrokinase-Type Plasminogen ActivatorCase ReportsJournal ArticleResearch Support, Non-U.S. Gov't

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Maurice A M van Steensel, Michel Van van Geel, Peter M Steijlen. Mal de Meleda without mutations in the ARS coding sequence.. https://pubmed.ncbi.nlm.nih.gov/11872406/

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