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....