Unusual presentation of severe photosensitivity and neurodevelopmental delay in a consanguineous family

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dc.contributor.authorAl-Hage, Jana
dc.contributor.authorNemer, Georges M.
dc.contributor.authorKassabian, Pamela
dc.contributor.authorKurban, Mazen S.
dc.contributor.departmentDermatology
dc.contributor.departmentBiochemistry and Molecular Genetics
dc.contributor.facultyFaculty of Medicine (FM)
dc.contributor.institutionAmerican University of Beirut
dc.date.accessioned2025-01-24T11:40:47Z
dc.date.available2025-01-24T11:40:47Z
dc.date.issued2020
dc.identifier.doihttps://doi.org/10.1111/ced.13948
dc.identifier.eid2-s2.0-85063001221
dc.identifier.pmid30861571
dc.identifier.urihttp://hdl.handle.net/10938/29572
dc.language.isoen
dc.publisherBlackwell Publishing Ltd
dc.relation.ispartofClinical and Experimental Dermatology
dc.sourceScopus
dc.subjectAdolescent
dc.subjectChild, preschool
dc.subjectConsanguinity
dc.subjectDevelopmental disabilities
dc.subjectEpilepsy
dc.subjectFemale
dc.subjectHomozygote
dc.subjectHumans
dc.subjectMale
dc.subjectMutation
dc.subjectPedigree
dc.subjectPhotosensitivity disorders
dc.subjectPorphyria, variegate
dc.subjectArticle
dc.subjectBlister
dc.subjectCase report
dc.subjectChild
dc.subjectClinical article
dc.subjectFamily
dc.subjectGene
dc.subjectGene mutation
dc.subjectHuman
dc.subjectMaternal uncle
dc.subjectMental disease
dc.subjectPhotosensitivity
dc.subjectPorphyria
dc.subjectPorphyria variegata
dc.subjectPpox gene
dc.subjectPreschool child
dc.subjectPriority journal
dc.subjectSun exposure
dc.subjectWhole exome sequencing
dc.subjectComplication
dc.subjectDevelopmental disorder
dc.subjectGenetics
dc.subjectPhotosensitivity disorder
dc.titleUnusual presentation of severe photosensitivity and neurodevelopmental delay in a consanguineous family
dc.typeArticle

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