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Article

Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations.

Experimental dermatology - 1 Jun 2011

Bergmann Carsten, Wobser Marion, Morbach Henner, Falkenbach Albrecht, Wittenhagen Dietrich, Lassay Lisa, Ott Hagen, Zerres Klaus, Girschick Herman J, Hamm Henning

Abstract excerpt

Digital clubbing is the most prominent feature in primary (PHO) and secondary (pulmonary) hypertrophic osteoarthropathy (HO). Homozygous and compound heterozygous germline mutations in the 15-hydroxyprostaglandin dehydrogenase (HPGD) gene encoding the major prostaglandin PGE2 catabolizing enzyme have been recently described in familial PHO cases. Elevated prostaglandin levels in affected individuals with...

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PMID: 21426412
DOI: 10.1111/j.1600-0625.2011.01248.x

Genes

HPGD

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Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations.PMID 21426412Read ↗

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Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy.Semantic proximity Read ↗

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