{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T03:56:57Z","timestamp":1768708617573,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,11,23]],"date-time":"2022-11-23T00:00:00Z","timestamp":1669161600000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Steroid 5\u03b1\u2010reductase type 3 congenital disorder of glycosylation (SRD5A3\u2010CDG) 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\u2010year\u2010old boy with SRD5A3\u2010CDG (homozygous variant c.57G&gt;A [p.Trp19Ter]), featuring the unprecedented finding of telangiectasia.<\/jats:p>","DOI":"10.1002\/ccr3.6564","type":"journal-article","created":{"date-parts":[[2022,11,24]],"date-time":"2022-11-24T08:01:26Z","timestamp":1669276886000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A rare case of\n                    <scp>SRD5A3\u2010CDG<\/scp>\n                    in a patient with ataxia and telangiectasia: A case report"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8181-0539","authenticated-orcid":false,"given":"Sayyed Hesamedin","family":"Nabavizadeh","sequence":"first","affiliation":[{"name":"Allergy Research Center, Department of Pediatrics, School of Medicine Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0797-6439","authenticated-orcid":false,"given":"Rafat","family":"Noeiaghdam","sequence":"additional","affiliation":[{"name":"Allergy Research Center, Department of Pediatrics, School of Medicine Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6785-1588","authenticated-orcid":false,"given":"Leila","family":"Johari","sequence":"additional","affiliation":[{"name":"Allergy Research Center, Department of Pediatrics, School of Medicine Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4397-1539","authenticated-orcid":false,"given":"Seyed Ali","family":"Hosseini","sequence":"additional","affiliation":[{"name":"School of Medicine Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0288-8181","authenticated-orcid":false,"given":"Hossein","family":"Esmaeilzadeh","sequence":"additional","affiliation":[{"name":"Allergy Research Center, Department of Pediatrics, School of Medicine Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7183-545X","authenticated-orcid":false,"given":"Soheila Sadat","family":"Alyasin","sequence":"additional","affiliation":[{"name":"Allergy Research Center, Department of Pediatrics, School of Medicine Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,23]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"crossref","first-page":"134","DOI":"10.14712\/fb2019065030134","article-title":"Review of SRD5A3 disease\u2010causing sequence variants and ocular findings in steroid 5\u03b1\u2010reductase type 3 congenital disorder of glycosylation, and a detailed new case","volume":"65","author":"Kousal B","year":"2019","journal-title":"Folia Biol"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijmr.IJMR_820_16"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0647-3"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13020359"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2021.01.017"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.737094"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104492"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62065"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01657-5"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0000000000002675"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.779502"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0543-7"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.06.001"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-10"},{"key":"e_1_2_11_16_1","unstructured":"Genetic and Rare Diseases Information Center.SRD5A3\u2010CDG (CDG\u2010Iq) \u2010 About the Disease 2022. Accessed 25 June 2022.https:\/\/rarediseases.info.nih.gov\/diseases\/12397\/srd5a3\u2010cdg\u2010cdg\u2010iq"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6564","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.6564","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6564","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T14:18:17Z","timestamp":1764253097000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.6564"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1002\/ccr3.6564"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.6564","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11]]},"assertion":[{"value":"2022-06-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e6564"}}