Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings

Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings

Rationale: Alport Syndrome (AS) is a progressive genetic condition characterized by chronic kidney disease (CKD), hearing loss, and eye abnormalities. It is caused by mutations in the genes COL4A3, COL4A4 , and COL4A5 . Heterozygous mutations in COL4A4 and COL4A3 cause autosomal dominant Alport Synd...

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Bibliographic Details
Main Authors: Clara Schott BMSc, Samantha Colaiacovo MSc, Cadence Baker MSc, Matthew A. Weir MD, MSc, Dervla M. Connaughton MD, PhD, MSc
Format: Article
Language:English
Published: SAGE Publishing 2024-04-01
Series:Canadian Journal of Kidney Health and Disease
Online Access:https://doi.org/10.1177/20543581241242562

Internet

https://doi.org/10.1177/20543581241242562

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