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Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient

D K Nolan1, M T Pastore2, K L McBride3

  • 1Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Anthropology, The Ohio State University, Columbus, OH, USA.

European Journal of Medical Genetics
|July 2, 2022
PubMed

Keywords:
CDGCongenital disorder of glycosylationNGLY1NGLY1 deficiency

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