{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T06:50:27Z","timestamp":1777704627117,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R15 DE026611"],"award-info":[{"award-number":["R15 DE026611"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    SATB2\u2010associated syndrome (SAS, glass syndrome, OMIM#612313) is a neurodevelopmental autosomal dominant disorder with frequent craniofacial abnormalities including palatal and dental anomalies. To assess the role of Satb2 in craniofacial development, we analyzed mutant mice at different stages of development. Here, we show that\n                    <jats:italic>Satb2<\/jats:italic>\n                    is broadly expressed in early embryonic mouse development including the mesenchyme of the second and third arches.\n                    <jats:italic>Satb2<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    mutant mice exhibit microglossia, a shortened lower jaw, smaller trigeminal ganglia, and larger thyroids. We correlate these findings with the detailed clinical phenotype of four individuals with SAS and remarkable craniofacial phenotypes with one requiring mandibular distraction in childhood. We conclude that the mouse and patient data presented support less well\u2010described phenotypic aspects of SAS including mandibular morphology and thyroid anatomical\/functional issues.\n                  <\/jats:p>","DOI":"10.1111\/cge.14540","type":"journal-article","created":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T01:20:20Z","timestamp":1714612820000},"page":"209-213","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Abnormalities in pharyngeal arch\u2010derived structures in SATB2\u2010associated syndrome"],"prefix":"10.1111","volume":"106","author":[{"given":"Yuri A.","family":"Zarate","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism University of Kentucky  Lexington Kentucky USA"},{"name":"Department of Pediatrics Section of Genetics and Metabolism, University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Bosanko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Section of Genetics and Metabolism, University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7886-4939","authenticated-orcid":false,"given":"Nada","family":"Derar","sequence":"additional","affiliation":[{"name":"Department of Genetics Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer L.","family":"Fish","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences University of Massachusetts Lowell  Lowell Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23771"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12761"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14330"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.211"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38630"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg248"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.05.012"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/508214"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-142X.2011.00511.x"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1108718109"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-26234-7"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.107722"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36076"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2015.12.019"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62896"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14540","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T06:46:02Z","timestamp":1719816362000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14540"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1111\/cge.14540"],"URL":"https:\/\/doi.org\/10.1111\/cge.14540","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14540\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14540\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14540\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14540\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14540\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14540\/v2\/response1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"2024-02-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}