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The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant

Murat Buyukdogan1, Veysel Sabri Hancer2, Ayhan Sucak3

  • 1Department of Medical Genetics, Faculty of Medicine, Istinye University, Istanbul, Turkey.

Molecular Syndromology
|April 17, 2023
PubMed
Abstract

Keywords:
COG5Congenital disorder of glycosylationFetusMutationPrenatal testing

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