Article
From renal biopsy to genetic diagnosis: EYA1 mutation in branchio-oto-renal syndrome with renal insufficiency.
BMC nephrology - 22 Nov 2025
Yang Miao, Lu Mengqiu, Feng Huiliang, Liu Xiaojuan
Abstract excerpt
BACKGROUND: Branchio-Oto-Renal (BOR) syndrome is a multisystemic autosomal dominant disorder characterized by pre-auricular pits, hearing loss, branchial fistulae, and renal urinary tract malformations. Although renal involvement is common in BOR syndrome, studies on its renal pathological features remain relatively scarce. CASE PRESENTATION: An 18-year-old male presented with proteinuria, renal insufficiency,...
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