Unusual presentation of severe photosensitivity and neurodevelopmental delay in a consanguineous family
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Blackwell Publishing Ltd
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Keywords
Adolescent, Child, preschool, Consanguinity, Developmental disabilities, Epilepsy, Female, Homozygote, Humans, Male, Mutation, Pedigree, Photosensitivity disorders, Porphyria, variegate, Article, Blister, Case report, Child, Clinical article, Family, Gene, Gene mutation, Human, Maternal uncle, Mental disease, Photosensitivity, Porphyria, Porphyria variegata, Ppox gene, Preschool child, Priority journal, Sun exposure, Whole exome sequencing, Complication, Developmental disorder, Genetics, Photosensitivity disorder