Article

A non-sense mutation in the Tripartite motif containing 8 (TRIM8 ) gene, mimicking collagenopathy

2024-11-18

Abstract excerpt

<title>Abstract</title> <p>Tripartite motif-containing 8 (TRIM8) gene mutations are associated with autosomal dominantly inherited neurorenal syndrome. The kidney manifestations range from nephrotic range proteinuria to nephrotic syndrome and kidney failure. The kidney histopathology was focal segmental glomerulosclerosis (FSGS) in all the reported cases. We now report a non-sense mutation in TRIM8 in a 1-year-ol...

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Literature Corpus work: 3e838825-746a-59b3-ad16-4dda4cfdc28c
DOI: 10.21203/rs.3.rs-5191613/v1

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