SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype

SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype

Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often leading to diagnosis. Additional symptoms are still poorly defined. In this case study, we discuss...

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Bibliographic Details
Main Authors: Nazreen Kamarus Jaman, Preeya Rehsi, Robert H. Henderson, Ulrike Löbel, Kshitij Mankad, Stephanie Grunewald
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-12-01
Series:Frontiers in Genetics
Subjects:
SRD5A3-CDG
steroid 5 alpha reductase deficiency
emerging phenotypic features
retinal dystrophy
congenital disorder of glycosylation
CDG
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.737094/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.737094/full

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