{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:13Z","timestamp":1772160073753,"version":"3.50.1"},"reference-count":3,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,1,26]],"date-time":"2023-01-26T00:00:00Z","timestamp":1674691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002753","name":"Universidad Nacional de Colombia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002753","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1111\/cge.14301","type":"journal-article","created":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T02:15:59Z","timestamp":1674008159000},"page":"720-722","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The family reported to have X\u2010linked\n                    <scp>Dyggve\u2013Melchior\u2013Clausen<\/scp>\n                    syndrome instead has X\u2010linked\n                    <scp>SEDT<\/scp>\n                    caused by a novel\n                    <scp>TRAPPC2<\/scp>\n                    frameshift variant"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7688-9094","authenticated-orcid":false,"given":"Juan J.","family":"Yunis","sequence":"first","affiliation":[{"name":"Grupo Patolog\u00eda Molecular Facultad de Medicina e Instituto de Gen\u00e9tica Universidad Nacional de Colombia  Bogot\u00e1 Colombia"},{"name":"Departamento de Patolog\u00eda, Facultad de Medicina e Instituto de Gen\u00e9tica Universidad Nacional de Colombia  Bogot\u00e1 Colombia"},{"name":"Servicios M\u00e9dicos Yunis Turbay y Cia SAS Instituto de Gen\u00e9tica  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luz K.","family":"Yunis","sequence":"additional","affiliation":[{"name":"Grupo Patolog\u00eda Molecular Facultad de Medicina e Instituto de Gen\u00e9tica Universidad Nacional de Colombia  Bogot\u00e1 Colombia"},{"name":"Servicios M\u00e9dicos Yunis Turbay y Cia SAS Instituto de Gen\u00e9tica  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00887.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb00714.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14301","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14301","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14301","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,5]],"date-time":"2025-04-05T16:51:57Z","timestamp":1743871917000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14301"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,26]]},"references-count":3,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1111\/cge.14301"],"URL":"https:\/\/doi.org\/10.1111\/cge.14301","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14301\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14301\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14301\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14301\/v1\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,26]]},"assertion":[{"value":"2022-12-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}