Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family

OBJECTIVE: Liddle syndrome (LS) is a monogenic hypertension consistent with autosomal dominant inheritance, often with early onset high blood pressure in childhood or adolescence. This study aimed to identify the pathogenicity of a nonsense mutation in SCNN1G in a Chinese family with LS and the long...

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Detalles Bibliográficos
Autores principales: Zhang, Di, Qu, Yi, Dong, Xue-Qi, Lu, Yi-Ting, Yang, Kun-Qi, Liu, Xin-Chang, Fan, Peng, Hu, Yu-Xiao, Yang, Chun-Xue, Gao, Ling-Gen, Liu, Ya-Xin, Zhou, Xian-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170920/
https://www.ncbi.nlm.nih.gov/pubmed/35685915
http://dx.doi.org/10.3389/fped.2022.887214

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170920/
https://www.ncbi.nlm.nih.gov/pubmed/35685915
http://dx.doi.org/10.3389/fped.2022.887214

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