Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction
Autor: | Anzai, Rie, Tsuji, Megumi, Yamashita, Sumimasa, Wada, Yoshinao, Okamoto, Nobuhiko, Saitsu, Hirotomo, Matsumoto, Naomichi, Goto, Tomohide |
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Zdroj: | In Brain and Development March 2021 43(3):402-410 |
Databáze: | ScienceDirect |
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