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  1. Article

    Open Access

    Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders

    PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid ...

    Zhen Zhang, Ti-Long Huang, **g Ma, Wen-Ji He, Huaiyu Gu in BMC Medical Genetics (2019)

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