Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension
Sign Up to like & getrecommendations! Published in 2020 at "American Journal of Hypertension"
DOI: 10.1093/ajh/hpaa037
Abstract: Abstract BACKGROUND Liddle syndrome (LS), an autosomal dominant disorder, is a common monogenic hypertension in pediatrics. In this study, we reported a novel SCNN1G variant in a Chinese family with pediatric LS, and conduct a… read more here.
Keywords: variant; family; liddle syndrome; hypertension ... See more keywords
PATHOGENICITY AND LONG-TERM OUTCOMES OF LIDDLE SYNDROME CAUSED BY A NONSENSE MUTATION OF SCNN1G IN A CHINESE FAMILY.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of hypertension"
DOI: 10.1097/01.hjh.0000837704.48850.ec
Abstract: OBJECTIVE Liddle syndrome (LS) is a common monogenic hypertension with continuous activation of epithelial sodium channels (ENaCs) encoded by SCNN1A, SCNN1B, and SCNN1G. This study aimed to identify the pathogenicity of a nonsense mutation in… read more here.
Keywords: scnn1g; family; pathogenicity; liddle syndrome ... See more keywords