A novel mutation in the HPGD gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis

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dc.contributor.authorStephan, Carla
dc.contributor.authorHanna, Edith
dc.contributor.authorNemer, Georges M.
dc.contributor.authorAbbas, Ossama M.
dc.contributor.authorKurban, Mazen S.
dc.contributor.departmentInternal Medicine
dc.contributor.departmentDermatology
dc.contributor.departmentBiochemistry and Molecular Genetics
dc.contributor.facultyFaculty of Medicine (FM)
dc.contributor.institutionAmerican University of Beirut
dc.date.accessioned2025-01-24T11:53:29Z
dc.date.available2025-01-24T11:53:29Z
dc.date.issued2018
dc.identifier.doihttps://doi.org/10.1016/j.jdcr.2018.07.007
dc.identifier.eid2-s2.0-85054560604
dc.identifier.urihttp://hdl.handle.net/10938/31112
dc.language.isoen
dc.publisherElsevier Inc
dc.relation.ispartofJAAD Case Reports
dc.sourceScopus
dc.subjectDigital clubbing
dc.subjectHpgd gene
dc.subjectHyperhidrosis
dc.subjectPalmoplantar keratoderma
dc.subject15 hydroxyprostaglandin dehydrogenase
dc.subjectAdult
dc.subjectArticle
dc.subjectBlood sampling
dc.subjectCase report
dc.subjectClinical article
dc.subjectDermatologist
dc.subjectDna extraction
dc.subjectEpidermis hyperplasia
dc.subjectFamily history
dc.subjectGene mutation
dc.subjectHand palm
dc.subjectHomozygosity
dc.subjectHuman
dc.subjectHyperkeratosis
dc.subjectHypertrophic osteoarthropathy
dc.subjectKeratoderma
dc.subjectMale
dc.subjectMedical history
dc.subjectPhenotype
dc.subjectPhysical examination
dc.subjectPriority journal
dc.subjectPunch biopsy
dc.subjectSingle nucleotide polymorphism
dc.subjectWhole exome sequencing
dc.subjectYoung adult
dc.titleA novel mutation in the HPGD gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis
dc.typeArticle

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