Associated Papers
Novel frameshift variant in the β subunit of epithelial sodium channels uncovers Liddle syndrome in a young patient with metabolic syndrome: a case report with review of literature.
Li A et al.
Endocrine Journal, 2026
Liddle syndrome with a SCNN1B mutation: a case report and systematic review.
Tang Q et al.
Bmc Nephrology, 2025
A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.
Lu Y et al.
Molecular Medicine Reports, 2024
38099339 (PubMed )
Supplement: Supplementary_Data.pdf
A case report of a young boy with low renin and high aldosterone levels induced by Liddle syndrome who was previously misdiagnosed with primary aldosteronism.
Jin Y et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023
Liddle Syndrome: Review of the Literature and Description of a New Case.
Tetti M et al.
International Journal of Molecular Sciences, 2018
Liddle syndrome: clinical and genetic profiles.
Cui Y et al.
Journal of Clinical Hypertension (greenwich, Conn.), 2017
Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?
Uyar B et al.
Molecular Biosystems, 2014
25057855 (PubMed )
Supplement: MB-010-C4mb00290c-s003.zip › Supplementary_file_22.xlsx › OMIM
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit.
Rossi E et al.
Journal of Hypertension, 2008
Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1.
Oh YS et al.
Experimental Nephrology, 0
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