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 seven-year-old boy with SRD5A3-CDG (homozygous variant c.57G>A [p.Trp19Ter]), featuring the unprecedented finding of telangiectasia.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9684675 | PMC |
| http://dx.doi.org/10.1002/ccr3.6564 | DOI Listing |
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