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

Stephan, Carla; Hanna, Edith; Nemer, Georges M.; Abbas, Ossama M.; Kurban, Mazen S.

doi:https://doi.org/10.1016/j.jdcr.2018.07.007

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

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2018-4128.pdf (768.75 KB)

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2018

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Elsevier Inc

Keywords

Digital clubbing, Hpgd gene, Hyperhidrosis, Palmoplantar keratoderma, 15 hydroxyprostaglandin dehydrogenase, Adult, Article, Blood sampling, Case report, Clinical article, Dermatologist, Dna extraction, Epidermis hyperplasia, Family history, Gene mutation, Hand palm, Homozygosity, Human, Hyperkeratosis, Hypertrophic osteoarthropathy, Keratoderma, Male, Medical history, Phenotype, Physical examination, Priority journal, Punch biopsy, Single nucleotide polymorphism, Whole exome sequencing, Young adult

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http://hdl.handle.net/10938/31112

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Internal Medicine
Biochemistry and Molecular Genetics
Dermatology

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

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