A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report
Abstract Steroid 5α‐reductase type 3 congenital disorder of glycosylation (SRD5A3‐CDG) is an extremely rare congenital disease. Common manifestations are developmental delay, intellectual disability, ophthalmological abnormalities, cerebellar abnormalities, ataxia, and hypotonia. Here, we discuss a...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-11-01
|
| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6564 |