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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| Auteurs principaux: | , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Frontiers Media S.A.
2021
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| Accès en ligne: | https://doaj.org/article/2c1a32e28fbe4d858ef21bf2008b43ac |
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