{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T19:56:30Z","timestamp":1772999790606,"version":"3.50.1"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T00:00:00Z","timestamp":1770508800000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Saul Wilson syndrome is an extremely rare genetic disorder caused by heterozygous de novo mutations in the\n                    <jats:italic>COG4<\/jats:italic>\n                    gene. We report the first case from Saudi Arabia with previously unreported facial dysmorphic features, expanding the known phenotypic spectrum and emphasizing the importance of recognizing phenotypic variability in rare disorders.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.71834","type":"journal-article","created":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T04:12:47Z","timestamp":1770610367000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-0830-3788","authenticated-orcid":false,"given":"Saad A.","family":"Bin Owaimer","sequence":"first","affiliation":[{"name":"Physician, General Pediatrics National Guard Hospital  Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatimah H.","family":"Abusrair","sequence":"additional","affiliation":[{"name":"Physician Dar Al\u2010Uloom University  Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"May R.","family":"Mutlaq","sequence":"additional","affiliation":[{"name":"Physician, Sulaiman Alrajhi University  Al\u2010Qassim Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eissa A.","family":"Faqeih","sequence":"additional","affiliation":[{"name":"Consultant, Clinical and Metabolic Genetics King Fahad Medical City  Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leen","family":"Abu\u2010Safieh","sequence":"additional","affiliation":[{"name":"Consultant, Clinical Research, Bioinformatics and Computational Biology Department King Fahad Medical City  Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,2,8]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.003"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.17912\/micropub.biology.000373"},{"key":"e_1_2_12_4_1","volume-title":"GeneReviews","author":"Ferreira C.","year":"2020"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61754"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100737\u20101"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.71834","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.71834","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.71834","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T17:22:50Z","timestamp":1772990570000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.71834"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1002\/ccr3.71834"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.71834","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2]]},"assertion":[{"value":"2025-08-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-08","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e71834"}}