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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
Open access Aug 2026

The Application Value of Chromosome Microarray Analysis in Prenatal Diagnosis of Clinically Relevant Copy Number Variations in Fetuses

Objective Exploring the clinical application value of chromosome microarray analysis (CMA) technology in detecting clinically relevant copy number variations (CNVs) in fetuses and evaluating its efficacy in prenatal diagnosis. Methods A retrospective analysis was conducted on 2860 pregnant women undergoing prenatal dia...

Huifang Liu, Wei Wang, Zhaoling Zhu et al. · 0 citations

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