article_metadata: Eva Pauline Macheroux Matthias C Braunisch Stephanie Pucci Pegler Robin Satanovskij Korbinian M Riedhammer Roman Günthner Oliver Gross Mato Nagel Lutz Renders Julia Hoefele
article_metadata: 10.3389/fped.2019.00485
article_metadata: Front Pediatr
article_metadata: 2019 Nov 26;7:485.
article_metadata: alport syndrome col4a5 esrd hearing impairment pgly624asp
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/31850286/
article_metadata: Case Reports
article_metadata: PMC6887795
article_metadata: 31850286
article_metadata: The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome
article_metadata: 2019