Alice Doubinsky

Probable autosomal dominant Alport syndrome associated with a novel COL4A4 variant: A case report

Alport syndrome is a hereditary glomerular basement membrane disorder caused by pathogenic variants in COL4A3, COL4A4, or COL4A5. Autosomal dominant forms are increasingly recognized but remain underdiagnosed due to their mild and heterogeneous presentation. We report the case of a 38-year-old woman referred for persis...