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Yi-Hui Wang

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Case report Open access Sep 2026

Biallelic SLCO2A1 variants in two siblings with primary hypertrophic osteoarthropathy and possible chronic enteropathy

Background and aims Pathogenic variants in the SLCO2A1 gene are responsible for two rare monogenic disorders: primary hypertrophic osteoarthropathy (PHO) and chronic enteropathy (CEAS). The clinical and genetic characteristics of individuals with either PHO or CEAS have been extensively documented in previous studies....

Tao Wang, Qian Zhang, T. Shi et al. · 0 citations

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