Article

Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil

2023-11-30

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>. Alport syndrome is a progressive and hereditary nephropathy characterized by hematuria and proteinuria as well as extra renal manifestations as hearing loss and eye abnormalities. The disease can be expressed as autosomal recessive or autosomal dominant at COL4A3 and COL4A4 loci, respectively, or X-linked at the COL4A5 locus. This study investigated two unrelate...

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Literature Corpus work: 390d718a-97df-502b-899f-991ab3c23560
DOI: 10.21203/rs.3.rs-3673343/v1

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