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Article

A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.

Modern rheumatology - 1 Mar 2015

Erken Eren, Köroğlu Çiğdem, Yıldız Fatih, Özer Hüseyin T E, Gülek Bozkurt, Tolun Aslıhan

Abstract excerpt

We present two PHO siblings having a novel homozygous truncating mutation in HPGD. The purpose of the study was to attempt medical treatment, and to find the HPGD mutation causing the disease, in a 22-year old Turkish male and his 23-year old sister afflicted with primary hypertrophic osteoarthro...

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Source

Identifiers

PMID: 24533558
DOI: 10.3109/14397595.2013.874757

Genes

HPGD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24533558-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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