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SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card

Jaak Jaeken, Dirk J. Lefeber, Gert Matthijs

2020European Journal of Human Genetics25 citationsDOIOpen Access PDF

Topics & Concepts

GeneticsGeneBiologyChromosomeGlycosylationGlycosylation and Glycoproteins ResearchMetabolism and Genetic DisordersGrowth Hormone and Insulin-like Growth Factors
SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card | Litcius