{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:25:01Z","timestamp":1777523101060,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2018,10,21]],"date-time":"2018-10-21T00:00:00Z","timestamp":1540080000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:p>We report 2 cases of mandibulofacial dysostosis with microcephaly (MFDM) with different and novel de novo mutations in the elongation factor Tu GTP binding domain containing 2 gene. Both cases were initially thought to have alternative disorders but were later correctly diagnosed through whole-exome sequencing. These cases expand upon our knowledge of the phenotypic spectrum in patients with MFDM, which will aid in defining the full phenotype of this disorder and increase awareness of this condition.<\/jats:p>","DOI":"10.1177\/1055665618806379","type":"journal-article","created":{"date-parts":[[2018,10,22]],"date-time":"2018-10-22T00:51:40Z","timestamp":1540169500000},"page":"674-678","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":16,"title":["Novel\n                    <i>De Novo<\/i>\n                    <i>EFTUD2<\/i>\n                    Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses"],"prefix":"10.1177","volume":"56","author":[{"given":"Jennie C.","family":"Lacour","sequence":"first","affiliation":[{"name":"Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lori","family":"McBride","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Children\u2019s Hospital, New Orleans, LA, USA"},{"name":"Craniofacial Team, Children\u2019s Hospital, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugo","family":"St. Hilaire","sequence":"additional","affiliation":[{"name":"Craniofacial Team, Children\u2019s Hospital, New Orleans, LA, USA"},{"name":"Division of Plastic and Reconstructive Surgery, LSU Health Sciences Center and Children\u2019s Hospital, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerhard S.","family":"Mundinger","sequence":"additional","affiliation":[{"name":"Craniofacial Team, Children\u2019s Hospital, New Orleans, LA, USA"},{"name":"Division of Plastic and Reconstructive Surgery, LSU Health Sciences Center and Children\u2019s Hospital, New Orleans, LA, 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USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Lacassie","sequence":"additional","affiliation":[{"name":"Craniofacial Team, Children\u2019s Hospital, New Orleans, LA, USA"},{"name":"Department of Pediatrics, Division of Genetics, LSU Health Sciences Center and Children\u2019s Hospital, New Orleans, LA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2018,10,21]]},"reference":[{"key":"bibr1-1055665618806379","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101173"},{"key":"bibr2-1055665618806379","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22924"},{"key":"bibr3-1055665618806379","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"bibr4-1055665618806379","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22517"},{"issue":"2","key":"bibr5-1055665618806379","first-page":"369","volume":"90","author":"Lines MA","year":"2012","journal-title":"Am J Med 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