{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:56:55Z","timestamp":1790632615431,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,2,13]],"date-time":"2018-02-13T00:00:00Z","timestamp":1518480000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Simons Foundation and the JPB Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>SATB2\u2010associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to case reports and small series without in\u2010depth phenotypic characterization or genotype\u2010phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Individuals with a molecularly confirmed diagnosis of SAS were referred after clinical diagnostic testing. In this series we present the most comprehensive phenotypic and genotypic characterization of SAS to date, including prevalence of each clinical feature, neurodevelopmental milestones, and when available, patient management. We confirm that the most distinctive features are neurodevelopmental delay with invariably severely limited speech, abnormalities of the palate (cleft or high\u2010arched), dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. This comprehensive clinical characterization will help clinicians with the diagnosis, counseling and management of SAS and help provide families with anticipatory guidance.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38630","type":"journal-article","created":{"date-parts":[[2018,2,13]],"date-time":"2018-02-13T03:16:56Z","timestamp":1518491816000},"page":"925-935","source":"Crossref","is-referenced-by-count":74,"title":["Natural history and genotype\u2010phenotype correlations in 72 individuals with\n                    <i>SATB2<\/i>\n                    \u2010associated syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8235-6200","authenticated-orcid":false,"given":"Yuri A.","family":"Zarate","sequence":"first","affiliation":[{"name":"Section of Genetics and Metabolism University of Arkansas for Medical Sciences Little Rock Arkansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8241-9574","authenticated-orcid":false,"given":"Constance L.","family":"Smith\u2010Hicks","sequence":"additional","affiliation":[{"name":"Division of Neurogenetics, Department of Neurology Kennedy Krieger Institute and Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Greene","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Maryland Baltimore Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary\u2010Alice","family":"Abbott","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baystate Medical Center Springfield Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria M.","family":"Siu","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics University of Western Ontario London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy R. 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