Kentaro Horiuchi Tomomi Kogiso Takaomi Sagawa Taito Ito Makiko Taniai Kenichiro Miura Motoshi Hattori Naoya Morisada Etsuko Hashimoto Katsutoshi Tokushige
10.2169/internalmedicine.5045-20
Intern Med
2020;59(21):2719-2724.
bardet-biedl syndrome hepatic fibrosis hyperleptinemia microvesicular steatohepatitis sodium channel and clathrin linker 1 (sclt1)
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/33132306/
Bardet-Biedl Syndrome / complications Bardet-Biedl Syndrome / genetics Bardet-Biedl Syndrome / physiopathology Fatty Liver / etiology Fatty Liver / physiopathology Mutation Sodium Channels / genetics
Bardet-Biedl Syndrome / complications Bardet-Biedl Syndrome / genetics Bardet-Biedl Syndrome / physiopathology Fatty Liver / etiology Fatty Liver / physiopathology Mutation Sodium Channels / genetics Case Reports Adult Humans Japan Male Young Adult SCLT1 protein, human Sodium Channels
PMC7691027
33132306
Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis
2020