Autosomal Recessive Alport Syndrome
Last Posted: Feb 28, 2023
- Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.
Horinouchi Tomoko, et al. Kidney360 2022 0 (9) 936-942
- Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
Zhang Yanqin, et al. Pediatric nephrology (Berlin, Germany) 2021 0 (9) 2719-2730
- Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review.
Matthaiou Andreas et al. Clinical kidney journal 2020 Dec 13(6) 1025-1036
- Alport Syndrome in Women and Girls.
Savige Judy et al. Clinical journal of the American Society of Nephrology : CJASN 2016 11(9) 1713-20
- Autosomal recessive Alport syndrome
From NCATS Genetic and Rare Diseases Information Center
- Mutations in the COL4A4 gene in thin basement membrane disease.
Buzza Mark, et al. Kidney international 2003 2 (2) 447-53
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- Page last updated:Mar 21, 2023
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