Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis

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). Skipp...

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Dettagli Bibliografici
Pubblicato in:Intern Med
Autori principali: Horiuchi, Kentaro, Kogiso, Tomomi, Sagawa, Takaomi, Ito, Taito, Taniai, Makiko, Miura, Kenichiro, Hattori, Motoshi, Morisada, Naoya, Hashimoto, Etsuko, Tokushige, Katsutoshi
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Japanese Society of Internal Medicine 2020
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7691027/
https://ncbi.nlm.nih.gov/pubmed/33132306
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.5045-20
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