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Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis

31 Aug 2018

Abstract excerpt

Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in HPGD and SLCO2A1, which involved in prostaglandin E2 metabolism. Here, we report 5 PHO patients from four non-consanguineous families. Two heterozygous mutations in solute carrier organic anion transporter family member 2A1 (SLCO2A1) were...

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PMID: 30352415
DOI: 10.1530/ec-18-0326

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