Liddle syndrome with a SCNN1B mutation: a case report and systematic review
Abstract Introduction Liddle syndrome is an autosomal dominant disorder caused by pathogenic gain-of-function variants in genes encoding epithelial sodium channel subunits, including α (SCNN1A), β (SCNN1B), and γ (SCNN1G). Among these, SCNN1B variants are most prevalent, with nearly all previously r...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-07-01
|
| Series: | BMC Nephrology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12882-025-04252-7 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|