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Anzai R, Tsuji M, Yamashita S, Wada Y, et al. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. Brain Dev 2020 Nov 28. pii: S0387-7604(20)30290.
PMID: 33261925


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