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Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele. The loss of\n                    <jats:italic>Crkl<\/jats:italic>\n                    , one of several neural tube\u2013expressed genes within the minimal deletion interval, was sufficient to replicate NTDs in mice, where both penetrance and expressivity were exacerbated by maternal folate deficiency. Thus, the common 22q11.2 deletion confers substantial meningomyelocele risk, which is partially alleviated by folate supplementation.\n                  <\/jats:p>","DOI":"10.1126\/science.adl1624","type":"journal-article","created":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T13:58:56Z","timestamp":1714658336000},"page":"584-590","update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":21,"title":["Risk of meningomyelocele mediated by the common 22q11.2 deletion"],"prefix":"10.1126","volume":"384","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5377-9845","authenticated-orcid":true,"given":"Keng Ioi","family":"Vong","sequence":"first","affiliation":[{"name":"Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA."},{"name":"Rady Children\u2019s Institute for Genomic Medicine, San Diego, CA 92123, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7723-5946","authenticated-orcid":true,"given":"Sangmoon","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA."},{"name":"Rady Children\u2019s Institute for Genomic Medicine, San Diego, CA 92123, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2694-5833","authenticated-orcid":true,"given":"Kit Sing","family":"Au","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children\u2019s Memorial Hermann Hospital, Houston, TX 77030, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3272-5458","authenticated-orcid":true,"given":"T. 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