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Article

Mutations in the gene encoding SLURP-1 in Mal de Meleda.

Human molecular genetics - 1 Apr 2001

Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop M, Hohl D, Prud'homme J F

Abstract excerpt

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 previously described interval of MDM on chromosome 8qter...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Keratoderma, Palmoplantar

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Identifiers

PMID: 11285253
DOI: 10.1093/hmg/10.8.875

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11285253-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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