Associated Papers
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
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_variants
A Family with Liddle Syndrome Caused by a Novel Stop-Gain Mutation in the γ Subunit of Epithelial Sodium Channels.
Wang X et al.
Nephron, 2022
Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family.
Zhang D et al.
Frontiers in Pediatrics, 2022
Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.
Kozina AA et al.
Bmc Nephrology, 2019
Molecular genetics of Liddle's syndrome.
Yang KQ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Phenotype-genotype analysis in two Chinese families with Liddle syndrome.
Gong L et al.
Molecular Biology Reports, 2014
Liddle syndrome in a Serbian family and literature review of underlying mutations.
Bogdanović R et al.
European Journal of Pediatrics, 2012
A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome.
Wang Y et al.
Clinical Endocrinology, 2007
Epithelial sodium channel, salt intake, and hypertension.
Hummler E
Current Hypertension Reports, 2003
Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit.
Hiltunen TP et al.
Journal of Hypertension, 2002
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