Project Details
Description
We will conduct a comprehensive literature review of genetic variants reported in patients with Liddle syndrome using a systematic search. The aim is to reclassify the genetic variants and subsequently determine phenotypic characteristics and potential genotype-phenotype correlations in patients carrying pathogenic or likely pathogenic genetic variants.
| Status | Finished |
|---|---|
| Effective start/end date | 06/03/2022 → 01/05/2024 |
Keywords
- Liddle syndrome
- ENaC
- Genetics
- Phenotype
Fingerprint
Explore the research topics touched on by this project. These labels are generated based on the underlying awards/grants. Together they form a unique fingerprint.
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Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome
Granhøj, J., Nøhr, T. K., Hinrichs, G. R., Rasmussen, M. & Svenningsen, P., May 2024, In: Clinical Journal of the American Society of Nephrology. 19, 5, p. 610-619Research output: Contribution to journal › Journal article › Research › peer-review
Open Access -
Critical literature review of genetic variants in reported cases of Liddle syndrome
Granhøj, J., Nøhr, T. K., Rasmussen, M. & Svenningsen, P., 6. Mar 2022, 5 p. Syddansk Universitet.Research output: Other contribution › Research
Open AccessFile61 Downloads (Pure)