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Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic

Aslı İnci1, Başak Cengiz1, Gürsel Biberoğlu1

  • 1Faculty of Medicine, Department of Metabolic Diseases, Gazi University, Ankara, Turkey.

American Journal of Medical Genetics. Part A
|May 7, 2021
PubMed

Keywords:
congenital defects of glycosylationdysmorphic featuresinborn errors of metabolismnext-generation DNA sequencing

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