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: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-11-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6564 |
| _version_ | 1811209427540246528 |
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| author | Sayyed Hesamedin Nabavizadeh Rafat Noeiaghdam Leila Johari Seyed Ali Hosseini Hossein Esmaeilzadeh Soheila Sadat Alyasin |
| author_facet | Sayyed Hesamedin Nabavizadeh Rafat Noeiaghdam Leila Johari Seyed Ali Hosseini Hossein Esmaeilzadeh Soheila Sadat Alyasin |
| author_sort | Sayyed Hesamedin Nabavizadeh |
| collection | DOAJ |
| description | 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 seven‐year‐old boy with SRD5A3‐CDG (homozygous variant c.57G>A [p.Trp19Ter]), featuring the unprecedented finding of telangiectasia. |
| first_indexed | 2024-04-12T04:39:11Z |
| format | Article |
| id | doaj.art-9a7aa671aca444beb4451aa85b55ee96 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-12T04:39:11Z |
| publishDate | 2022-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-9a7aa671aca444beb4451aa85b55ee962022-12-22T03:47:42ZengWileyClinical Case Reports2050-09042022-11-011011n/an/a10.1002/ccr3.6564A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case reportSayyed Hesamedin Nabavizadeh0Rafat Noeiaghdam1Leila Johari2Seyed Ali Hosseini3Hossein Esmaeilzadeh4Soheila Sadat Alyasin5Allergy Research Center, Department of Pediatrics, School of Medicine Shiraz University of Medical Sciences Shiraz IranAllergy Research Center, Department of Pediatrics, School of Medicine Shiraz University of Medical Sciences Shiraz IranAllergy Research Center, Department of Pediatrics, School of Medicine Shiraz University of Medical Sciences Shiraz IranSchool of Medicine Shiraz University of Medical Sciences Shiraz IranAllergy Research Center, Department of Pediatrics, School of Medicine Shiraz University of Medical Sciences Shiraz IranAllergy Research Center, Department of Pediatrics, School of Medicine Shiraz University of Medical Sciences Shiraz IranAbstract 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.https://doi.org/10.1002/ccr3.6564Allergy and immunologyGeneticsPediatricsSRD5A3‐CDG |
| spellingShingle | Sayyed Hesamedin Nabavizadeh Rafat Noeiaghdam Leila Johari Seyed Ali Hosseini Hossein Esmaeilzadeh Soheila Sadat Alyasin A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report Clinical Case Reports Allergy and immunology Genetics Pediatrics SRD5A3‐CDG |
| title | A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report |
| title_full | A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report |
| title_fullStr | A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report |
| title_full_unstemmed | A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report |
| title_short | A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report |
| title_sort | rare case of srd5a3 cdg in a patient with ataxia and telangiectasia a case report |
| topic | Allergy and immunology Genetics Pediatrics SRD5A3‐CDG |
| url | https://doi.org/10.1002/ccr3.6564 |
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