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...

Source: BMC Medical Genetics - June 23, 2020 Category: Genetics & Stem Cells Authors: Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan and ZhongqinJin Tags: Case report Source Type: research