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- W4311763527 abstract "Several hereditary syndromes manifest with a distinct thickening of the palmar skin referred to as keratoderma. However, historically, the genetic cause of the condition has not always been resolved. We report 2 sisters who presented with palmoplantar keratoderma, digital clubbing, and hyperhidrosis, who were subject to a clinical case report in 1972.1 At a revisit, 50 years after the initial case presentation, the family was molecularly diagnosed with a deleterious variant in the gene 15-hydroxyprostaglandin dehydrogenase (HPGD), found in both sisters (OMIM #259100)." @default.
- W4311763527 created "2022-12-28" @default.
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- W4311763527 date "2023-01-01" @default.
- W4311763527 modified "2023-10-18" @default.
- W4311763527 title "Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy" @default.
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- W4311763527 doi "https://doi.org/10.1016/j.jdcr.2022.11.025" @default.
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