Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
Sign Up to like & getrecommendations! Published in 2018 at "Human Genome Variation"
DOI: 10.1038/s41439-018-0016-8
Abstract: We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport… read more here.
Keywords: focal segmental; rare causes; col4a5 rare; variants col4a4 ... See more keywords