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

Abstract Background NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor growth. This study presents a 10-month-old...

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Main Authors:	Haixia Ge (Author), Qingbin Wu (Author), Huigang Lu (Author), Yong Huang (Author), Tingting Zhou (Author), Danlin Tan (Author), ZhongqinJin (Author)
Format:	Book
Published:	BMC, 2020-06-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
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