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  1. Article

    Open Access

    Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation

    NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnor...

    Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou… in BMC Medical Genetics (2020)

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