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Article

A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.

Archives of dermatology - 1 Jun 2011

Gruber Robert, Hennies Hans C, Romani Nikolaus, Schmuth Matthias

Abstract excerpt

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Share to Anti-Infective Agents
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Keratoderma, Palmoplantar

Share to Mutation, Missense

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Source

Identifiers

PMID: 21690549
DOI: 10.1001/archdermatol.2011.138

Genes

SLURP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.PMID 21690549Read ↗

A novel mutation in SLURP1 in patients with Mal de Meleda from Turkey.Semantic proximity Read ↗

A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.Semantic proximity Read ↗

A Japanese case of Mal de Meleda with SLURP1 mutation.Semantic proximity Read ↗

Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda.Semantic proximity Read ↗

Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.Semantic proximity Read ↗

A novel homozygous mutation of DARS2 may cause a severe LBSL variant.Semantic proximity Read ↗

Novel mutation in SPRED1: a sporadic case of Legius syndrome in an infant.Semantic proximity Read ↗

A de novo C19orf12 heterozygous mutation in a patient with MPAN.Semantic proximity Read ↗

A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda.Semantic proximity Read ↗

Mutations in the gene encoding SLURP-1 in Mal de Meleda.Semantic proximity Read ↗

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