Critical literature review of genetic variants in reported cases of Liddle syndrome

Granhøj, Jeff (Project participant)
Rasmussen, Maria (Project participant)
Svenningsen, Per (Project participant)
Nøhr, Thomas Kromann (Project participant)

Klinisk Genetik, Sygehus Lillebælt

Project: Research

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	Active
Effective start/end date	06/03/2022 → …

Keywords

Liddle syndrome
ENaC
Genetics
Phenotype

Documents & Links

Critical literature review of genetic variants in reported cases of Liddle syndrome_A protocol
File: application/pdf, 166 KB
Type: Text file

1 Other contribution

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 Access
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Critical literature review of genetic variants in reported cases of Liddle syndrome

Project Details

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Critical literature review of genetic variants in reported cases of Liddle syndrome

Critical literature review of genetic variants in reported cases of Liddle syndrome

Project Details

Description

Keywords

Documents & Links

Fingerprint

Related research output

Critical literature review of genetic variants in reported cases of Liddle syndrome