{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T19:46:07Z","timestamp":1791834367220,"version":"4.3.4"},"reference-count":19,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T00:00:00Z","timestamp":1791504000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T00:00:00Z","timestamp":1791504000000},"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"],"abstract":"<jats:p>\n                    Witteveen-Kolk syndrome (WKS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic\n                    <jats:italic toggle=\"yes\">SIN3A<\/jats:italic>\n                    variants, with diagnosis complicated by variable physical findings. We describe two unrelated patients with\n                    <jats:italic toggle=\"yes\">de novo SIN3A<\/jats:italic>\n                    variants identified through trio whole exome sequencing, expanding the phenotype of WKS. Patient 1, a 16-year-old female, presented with bilateral cleft lip and palate, retained primary teeth, and horseshoe kidney: findings not previously reported in WKS. Patient 2, a 5-year-old male, exhibited macrocephaly and obesity, also novel to the WKS phenotype. These findings broaden the recognized clinical spectrum of WKS, supporting earlier and accurate diagnosis, and improved genetic counseling.\n                  <\/jats:p>","DOI":"10.1177\/10556656261494180","type":"journal-article","created":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T13:16:17Z","timestamp":1791551777000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Witteveen-Kolk Syndrome: Two Patients With Craniofacial Features and Novel\n                    <i>SIN3A<\/i>\n                    Variants"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-4799-7602","authenticated-orcid":false,"given":"Bennett","family":"Cleff","sequence":"first","affiliation":[{"name":"McGovern Medical School, The University of Texas Health Science Center at Houston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7800-9273","authenticated-orcid":false,"given":"Ellen","family":"Wang","sequence":"additional","affiliation":[{"name":"McGovern Medical School, The University of Texas Health Science Center at Houston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Bolen","sequence":"additional","affiliation":[{"name":"McGovern Medical School, The University of Texas Health Science Center at Houston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Basta","sequence":"additional","affiliation":[{"name":"McGovern Medical School, The University of Texas Health Science Center at Houston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-8687-9816","authenticated-orcid":false,"given":"Tien","family":"Do","sequence":"additional","affiliation":[{"name":"McGovern Medical School, The University of Texas Health Science Center at Houston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9356-7887","authenticated-orcid":false,"given":"Paul R.","family":"Hillman","sequence":"additional","affiliation":[{"name":"McGovern Medical School, The University of Texas Health Science Center at Houston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline T.","family":"Hecht","sequence":"additional","affiliation":[{"name":"McGovern Medical School, The University of Texas Health Science Center at Houston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Greives","sequence":"additional","affiliation":[{"name":"McGovern Medical School, The University of Texas Health Science Center at Houston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5263-9581","authenticated-orcid":false,"given":"Emily","family":"Hansen-Kiss","sequence":"additional","affiliation":[{"name":"The University of Texas Health Science Center at Houston School of Dentistry"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,10,9]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3619"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.10.004"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2385"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00769-7"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61775"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61950"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2022.01.003"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1177\/10556656251314260"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2011.12.019"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.22477"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.11"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.744"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1556\/ABiol.62.2011.2.4"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M010778200"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2013.03.008"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2025.1576324"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.chc.2017.03.001"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.2196\/41610"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.2196\/39172"}],"container-title":["The 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