Cargando…
A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children
Alport syndrome is a heterogeneous genetic disease involving the basement membrane of the glomeruli, inner ear, retina, and lens capsule. It typically manifests as progressive glomerulopathy that frequently results in end-stage renal disease, high-tone sensorineural deafness, and ocular abnormalitie...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613556/ https://www.ncbi.nlm.nih.gov/pubmed/34901198 http://dx.doi.org/10.1159/000519076 |