{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:32:28Z","timestamp":1790191948057,"version":"4.1.0"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,11,10]],"date-time":"2024-11-10T00:00:00Z","timestamp":1731196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1111\/cge.14643","type":"journal-article","created":{"date-parts":[[2024,11,11]],"date-time":"2024-11-11T01:34:31Z","timestamp":1731288871000},"page":"231-233","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of a Rare Branch Point Variant in the <i>SMS<\/i> Gene in a Large Family With a Severe Form of Snyder\u2013Robinson Syndrome"],"prefix":"10.1111","volume":"107","author":[{"given":"Antoine","family":"Civit","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre Hospitalier R\u00e9gional Universitaire de Tours  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Ronce","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre Hospitalier R\u00e9gional Universitaire de Tours  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogn\u00e9","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU de Nantes, CNRS, INSERM, l'institut du thorax  Nantes France"},{"name":"Nantes Universit\u00e9, CHU de Nantes, Service de G\u00e9n\u00e9tique m\u00e9dicale  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Besnard","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU de Nantes, CNRS, INSERM, l'institut du thorax  Nantes France"},{"name":"Nantes Universit\u00e9, CHU de Nantes, Service de G\u00e9n\u00e9tique m\u00e9dicale  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Laurenceau","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre Hospitalier R\u00e9gional Universitaire de Tours  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Hubert","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre Hospitalier R\u00e9gional Universitaire de Tours  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Pierre","family":"Moizard","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre Hospitalier R\u00e9gional Universitaire de Tours  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Gueguen","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre Hospitalier R\u00e9gional Universitaire de Tours  Tours France"},{"name":"UMR 1253, iBrain, Universit\u00e9 de Tours, INSERM  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Toutain","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre Hospitalier R\u00e9gional Universitaire de Tours  Tours France"},{"name":"UMR 1253, iBrain, Universit\u00e9 de Tours, INSERM  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1080-972X","authenticated-orcid":false,"given":"Marie\u2010Laure","family":"Vuillaume","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre Hospitalier R\u00e9gional Universitaire de Tours  Tours France"},{"name":"UMR 1253, iBrain, Universit\u00e9 de Tours, INSERM  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,11,10]]},"reference":[{"key":"e_1_2_1_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096\u20108628(19990312)83:2<132::aid\u2010ajmg9>3.0.co;2\u2010y"},{"key":"e_1_2_1_5_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2211194119"},{"key":"e_1_2_1_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rare.2023.100017"},{"key":"e_1_2_1_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201072"},{"key":"e_1_2_1_5_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms17010077"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14643","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T03:41:50Z","timestamp":1736739710000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14643"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,10]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1111\/cge.14643"],"URL":"https:\/\/doi.org\/10.1111\/cge.14643","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,10]]},"assertion":[{"value":"2024-09-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}