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