Implications of a Genetic Etiology for Renal Transplant: Early-Onset Alport Syndrome with a Novel Mutation
{{output}}
Alport's syndrome (AS) is a rare disorder characterized by a triad of deafness, progressive renal dysfunction, and ocular abnormalities. We presented a patient of early onset AS with a novel frameshift pathogenic variant in the COL4A5 gene and discuss the util... ...
