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Updated: Oct 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype

Nazreen Kamarus Jaman1, Preeya Rehsi1, Robert H Henderson2,3

  • 1Metabolic Department, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.

Frontiers in Genetics
|December 20, 2021
PubMed

Keywords:
CDGSRD5A3-CDGcongenital disorder of glycosylationemerging phenotypic featuresretinal dystrophysteroid 5 alpha reductase deficiency

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