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Titel:

Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis.

Dokumenttyp:
Journal Article
Autor(en):
Braunisch, Matthias C; Büttner-Herold, Maike; Günthner, Roman; Satanovskij, Robin; Riedhammer, Korbinian M; Herr, Pierre-Maurice; Klein, Hanns-Georg; Wahl, Dagmar; Küchle, Claudius; Renders, Lutz; Heemann, Uwe; Schmaderer, Christoph; Hoefele, Julia
Abstract:
Introduction: Steroid-resistant nephrotic syndrome (SRNS) is one of the most frequent causes for chronic kidney disease in childhood. In ~30% of these cases a genetic cause can be identified. The histological finding in SRNS is often focal segmental glomerulosclerosis (FSGS). In rare cases, however, pathogenic variants in genes associated with Alport syndrome can be identified in patients with the histological finding of FSGS. Materials and Methods: Clinical information was collected out of clin...     »
Zeitschriftentitel:
Front Pediatr
Jahr:
2018
Band / Volume:
6
Volltext / DOI:
doi:10.3389/fped.2018.00171
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/29946535
TUM Einrichtung:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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