Yang Y, Shen Z, Zhang L, Guo W, Gong S, Cai J, Wang J, Yuan S et al.
A case report described an 18-year-old female with a de novo heterozygous 17q12 microdeletion (34807034-36285028) encompassing 17 protein-coding genes, including HNF1B, AATF, and DDX52, presenting with hepatic dysfunction, hyperuricemia, hypomagnesemia, and multiple renal cysts. Whole-exome sequencing with copy number variation verification confirmed the deletion. The findings suggest that whole-exome sequencing is warranted in young patients with early-onset metabolic and renal abnormalities.
Clinical Nephrology. Case Studies, 25. März 2026 | PMID 41924323