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Last Updated: 10/31/2025
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Found 2767 publications
Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.
Journal: Renal failure
Published: October 14, 2025
Nephrotic syndrome as the first symptom in Alport syndrome children.
Journal: Clinical nephrology
Published: October 09, 2025
An Elusive Diagnosis of Autosomal Dominant Alport Syndrome: Genomic Sequencing Is a Game Changer.
Journal: Cureus
Published: October 07, 2025
Severe Clinical Phenotype in Alport Syndrome Due to 2 COL4A4 Exon-Skipping Events.
Journal: Kidney medicine
Published: October 06, 2025
Effect of 2-Hydroxypropyl-γ-cyclodextrin on Renal Inflammation in Alport Mouse Model.
Journal: Biological & pharmaceutical bulletin
Published: October 01, 2025
Dual Renal and Cardiac Phenotypes Associated with Rare Variants Inherited from Both Parents.
Journal: Internal medicine (Tokyo, Japan)
Published: October 01, 2025
Autosomal recessive Alport syndrome should be diagnosed in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected.
Journal: Internal medicine (Tokyo, Japan)
Published: September 03, 2025
Response to "Diagnose autosomal recessive Alport syndrome in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected".
Journal: Internal medicine (Tokyo, Japan)
Published: September 03, 2025
A case report of Alport syndrome a denovo mosaic variation in the COL4A5 gene
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: August 20, 2025
Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing.
Journal: The American journal of case reports
Published: August 06, 2025
Successful management of a giant macular hole in Alport syndrome using autologous retinal translation as an initial procedure.
Journal: Retinal cases & brief reports
Published: July 31, 2025
Extracellular Matrix: Alport Syndrome.
Journal: Advances in experimental medicine and biology
Published: July 30, 2025
Last Updated: 10/31/2025