{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T12:16:09Z","timestamp":1788437769809,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T00:00:00Z","timestamp":1788393600000},"content-version":"vor","delay-in-days":245,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    <jats:italic>ASXL3<\/jats:italic>\n                    \u2010related disorder, also known as Bainbridge\u2013Ropers syndrome (BRPS), is a neurodevelopmental condition first described by Bainbridge et al. and characterized by delayed psychomotor development, learning difficulties, characteristic craniofacial features, hypotonia, behavioral problems, and feeding problems. It is associated with heterozygous truncating pathogenic variants in the\n                    <jats:italic>ASXL3<\/jats:italic>\n                    gene, located at chromosomal region 18q12.1. In this study, exome sequencing was performed in a 7\u2010month\u2010old male and a 4\u2010year\u2010old female patient who presented with unexplained developmental delay. De novo truncating variants in the\n                    <jats:italic>ASXL3<\/jats:italic>\n                    gene were identified in both patients. Genetic analysis revealed that Patient 1 had a canonical splice\u2010site likely pathogenic variant in the\n                    <jats:italic>ASXL3<\/jats:italic>\n                    gene c.3039\u2009+\u20091G\u2009&gt;\u2009\n                    <jats:italic>A<\/jats:italic>\n                    . Patient 2 had a pathogenic variant in the\n                    <jats:italic>ASXL3<\/jats:italic>\n                    gene c.1864_1867dup; p.Thr623Metfs\n                    <jats:sup>\u2217<\/jats:sup>\n                    25. We compared the patients\u2019 physical examination findings, clinical characteristics, and genetic results with those reported in the literature. This case report emphasizes the phenotypic spectrum of this disorder and describes a variant that, to our knowledge, has not been previously reported in the literature.\n                  <\/jats:p>","DOI":"10.1155\/crig\/9304690","type":"journal-article","created":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T11:39:01Z","timestamp":1788435541000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Two Cases of\n                    <i>ASXL3<\/i>\n                    \u2010Related Bainbridge\u2013Ropers Syndrome: Clinical and Genetic Evaluation"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6816-7267","authenticated-orcid":false,"given":"\u015eirin Sedef","family":"Ba\u015f","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6255-1057","authenticated-orcid":false,"given":"Burcu","family":"Yeter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0051-6720","authenticated-orcid":false,"given":"Nursel H.","family":"Elcioglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,3]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2024.1456433"},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1186\/gm415"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14506"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2023.1244176"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2020.00075"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv499"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62981"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62465"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104360"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.165"},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14701"},{"key":"e_1_2_9_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37653"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/9304690","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/9304690","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/9304690","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T11:39:03Z","timestamp":1788435543000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/9304690"}},"subtitle":[],"editor":[{"given":"Abdullah","family":"Sezer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crig\/9304690"],"URL":"https:\/\/doi.org\/10.1155\/crig\/9304690","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-11-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"9304690"}}