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Article

Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.

International journal of dermatology - 1 Nov 2017

Radiono Sunardi, Pramono Zacharias A D, Oh Glenda G K, Surana Uttam, Widiyani Syahfori, Danarti Retno

Abstract excerpt

BACKGROUND: Mal de Meleda (OMIM# 248300; keratosis palmoplantaris transgrediens) is an autosomal recessive form of palmoplantar keratoderma, clinically characterized by sharp demarcated erythema and hyperkeratosis of the palms and soles that progress with age and extend to the dorsal aspects of the hands and feet. The mal de Meleda is caused by mutations in the SLURP1 gene that encodes secreted lymphocyte antigen...

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Source

Identifiers

PMID: 29023701
DOI: 10.1111/ijd.13776

Genes

SLURP1

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.PMID 29023701Read ↗

Mal de Meleda: A Focused Review.Semantic proximity Read ↗

A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.Semantic proximity Read ↗

Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.Semantic proximity Read ↗

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.Semantic proximity Read ↗

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.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 ↗

Clinical and genetic characteristics of Nagashima-type palmoplantar keratoderma: A single-centre cross-sectional studySemantic proximity Read ↗

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani familiesSemantic proximity Read ↗

Abnormal keratinization and cutaneous inflammation in Mal de Meleda.Semantic proximity Read ↗

Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.Semantic proximity Read ↗

Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda.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 ↗

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