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dc.contributor.authorFasham, James
dc.contributor.authorBaple, Emma L.
dc.contributor.authorCrosby, Andrew H.
dc.date.accessioned2019-12-24T12:38:03Z
dc.date.available2019-12-24T12:38:03Z
dc.date.issued2019-08
dc.identifier.citationAkbar A [et al]. Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families. BMC Medical Genetics. 2019 Aug 23;20(1):145en_US
dc.identifier.pmid31443639
dc.identifier.doi10.1186/s12881-019-0872-1
dc.identifier.urihttps://rde.dspace-express.com/handle/11287/621154
dc.description.abstractInherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 genes have been reported to be associated with PPKs including desmoglein 1 (DSG1) a key molecular component for epidermal adhesion and differentiation. Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized by transgrediens PPK, associated with mutations in the secreted LY6/PLAUR domain containing 1 (SLURP1) gene.en_US
dc.language.isoenen_US
dc.publisherBiomed Centralen_US
dc.relation.urlhttps://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-0872-1en_US
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen_US
dc.titleNovel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani familiesen_US
dc.typeJournal Articleen_US
dc.identifier.journalBMC Medical Geneticsen_US
dc.identifier.pmcidPMC6708247
dc.description.noteThis article is freely available online via Open Access. Click on the Publisher URL to access the full-text via the publisher's site.en_US
dc.type.versionPublisheden_US


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