Article
Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis.
Internal medicine (Tokyo, Japan) - 1 Jan 2020
Horiuchi Kentaro, Kogiso Tomomi, Sagawa Takaomi, Ito Taito, Taniai Makiko, Miura Kenichiro, Hattori Motoshi, Morisada Naoya, Hashimoto Etsuko, Tokushige Katsutoshi
Abstract excerpt
We treated the case of a 22-year-old male patient with liver dysfunction. At 1 year of age, hepatic fibrosis was suspected. In addition, due to the presence of retinitis pigmentosa, renal failure, obesity, mental retardation, and hypogonadism, he was diagnosed with Bardet-Biedl syndrome (BBS). Skipping of exons 14 and 17 in the sodium channel and clathrin linker 1 (SCLT1) gene was observed. At 22 years of age,...
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