Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.

doi:10.1002/humu.22111

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Article

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.

Human mutation - 1 Aug 2012

Diggle Christine P, Parry David A, Logan Clare V, Laissue Paul, Rivera Carolina, Restrepo Carlos Martín, Fonseca Dora J, Morgan Joanne E, Allanore Yannick, Fontenay Michaela, Wipff Julien, Varret Mathilde, Gibault Laure, Dalantaeva Nadezhda, Korbonits Márta, Zhou Bowen, Yuan Gang, Harifi Ghita, Cefle Kivanc, Palanduz Sukru, Akoglu Hadim, Zwijnenburg Petra J, Lichtenbelt Klaske D, Aubry-Rozier Bérengère, Superti-Furga Andrea, Dallapiccola Bruno, Accadia Maria, Brancati Francesco, Sheridan Eamonn G, Taylor Graham R, Carr Ian M, Johnson Colin A, Markham Alexander F, Bonthron David T

Abstract excerpt

Pachydermoperiostosis, or primary hypertrophic osteoarthropathy (PHO), is an inherited multisystem disorder, whose features closely mimic the reactive osteoarthropathy that commonly accompanies neoplastic and inflammatory pathologies. We previously described deficiency of the prostaglandin-degrading enzyme 15-hydroxyprostaglandin dehydrogenase (HPGD) as a cause of this condition, implicating elevated circulating...

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PMID: 22553128
DOI: 10.1002/humu.22111

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HPGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.PMID 22553128Read ↗

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