{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T05:16:58Z","timestamp":1740719818533,"version":"3.38.0"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,26]]},"DOI":"10.7759\/cureus.79730","type":"journal-article","created":{"date-parts":[[2025,2,27]],"date-time":"2025-02-27T07:13:44Z","timestamp":1740640424000},"source":"Crossref","is-referenced-by-count":0,"title":["Delayed Diagnosis of Aicardi-Gouti\u00e8res Syndrome in a 10-Year-Old Female Child With TREX1 Mutation: A Case Report"],"prefix":"10.7759","author":[{"given":"Leen","family":"Al Zayer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"Al Zayer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdulrahman","family":"Alrujaib","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asal","family":"Buhasan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raafat Hamad Seroor H","family":"Jadah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36887","article-title":"Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1","volume":"167A","author":"Crow YJ","year":"2015","unstructured":"Crow YJ, Chase DS, Lowenstein Schmidt J, et al.. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015, 167A:296-312. 10.1002\/ajmg.a.36887","journal-title":"Am J Med Genet A"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp293","article-title":"Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity","volume":"18","author":"Crow YJ","year":"2009","unstructured":"Crow YJ, Rehwinkel J. Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet. 2009, 18:R130-6. 10.1093\/hmg\/ddp293","journal-title":"Hum Mol Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.33588\/rn.7211.2021071","article-title":"Aicardi-Goutieres syndrome: a family case due to alteration of the RNASEH2B gene [Article in Spanish]","volume":"72","author":"Viguera-El\u00edas D","year":"2021","unstructured":"Viguera-El\u00edas D, de la Iglesia-Nagore I, Toledo-Gotor C, Dom\u00ednguez-Garrido E, Poch-Oliv\u00e9 ML. Aicardi-Goutieres syndrome: a family case due to alteration of the RNASEH2B gene [Article in Spanish]. Rev Neurol. 2021, 72:407-9. 10.33588\/rn.7211.2021071","journal-title":"Rev Neurol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1177\/0883073819870944","article-title":"Developmental outcomes of Aicardi Gouti\u00e8res syndrome","volume":"35","author":"Adang L","year":"2020","unstructured":"Adang L, Gavazzi F, De Simone M, et al.. Developmental outcomes of Aicardi Gouti\u00e8res syndrome. J Child Neurol. 2020, 35:7-16. 10.1177\/0883073819870944","journal-title":"J Child Neurol"},{"key":"ref5","unstructured":"National Center for Biotechnology Information. Aicardi-Goutieres syndrome 7. (2024). Accessed: December 22, 2024: https:\/\/www.ncbi.nlm.nih.gov\/medgen\/854829."},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a002758","article-title":"Combination of exome sequencing and immune testing confirms Aicardi-Gouti\u00e8res syndrome type 5 in a challenging pediatric neurology case","volume":"4","author":"Haskell GT","year":"2018","unstructured":"Haskell GT, Mori M, Powell C, et al.. Combination of exome sequencing and immune testing confirms Aicardi-Gouti\u00e8res syndrome type 5 in a challenging pediatric neurology case. Cold Spring Harb Mol Case Stud. 2018, 4:10.1101\/mcs.a002758","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-022-00679-2","article-title":"Clinical spectrum and currently available treatment of type I interferonopathy\u00a0Aicardi-Gouti\u00e8res syndrome","volume":"19","author":"Dell'Isola GB","year":"2023","unstructured":"Dell'Isola GB, Dini G, Culpepper KL, et al.. Clinical spectrum and currently available treatment of type I interferonopathy\u00a0Aicardi-Gouti\u00e8res syndrome. World J Pediatr. 2023, 19:635-43. 10.1007\/s12519-022-00679-2","journal-title":"World J Pediatr"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.7724","article-title":"Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Gouti\u00e8res syndrome","volume":"11","author":"Galli J","year":"2023","unstructured":"Galli J, Cattalini M, Loi E, et al.. Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Gouti\u00e8res syndrome. Clin Case Rep. 2023, 11:e7724. 10.1002\/ccr3.7724","journal-title":"Clin Case Rep"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/338541-delayed-diagnosis-of-aicardi-goutires-syndrome-in-a-10-year-old-female-child-with-trex1-mutation-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,27]],"date-time":"2025-02-27T07:13:46Z","timestamp":1740640426000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/338541-delayed-diagnosis-of-aicardi-goutires-syndrome-in-a-10-year-old-female-child-with-trex1-mutation-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,26]]},"references-count":8,"URL":"https:\/\/doi.org\/10.7759\/cureus.79730","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,2,26]]}}}