The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome

Background: Alport syndrome (AS) is a progressive kidney disorder leading to end stage renal disease (ESRD). Extrarenal symptoms like hearing loss and ocular changes can be observed. Approximately 85% of the patients carry pathogenic variants in COL4A5 (X-linked inheritance). The variant c.1871G>...

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Detalles Bibliográficos
Autores principales: Macheroux, Eva Pauline, Braunisch, Matthias C., Pucci Pegler, Stephanie, Satanovskij, Robin, Riedhammer, Korbinian M., Günthner, Roman, Gross, Oliver, Nagel, Mato, Renders, Lutz, Hoefele, Julia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6887795/
https://www.ncbi.nlm.nih.gov/pubmed/31850286
http://dx.doi.org/10.3389/fped.2019.00485

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