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It is caused by variants of the\n                    <jats:italic>DNMT3A<\/jats:italic>\n                    gene. We report four patients with this syndrome due to de novo\n                    <jats:italic>DNMT3A<\/jats:italic>\n                    pathogenic variants, contributing to a deeper understanding of the genetic basis and pathophysiology of this autosomal dominant syndrome. Clinical and magnetic resonance imaging assessments were also performed. All patients showed corpus callosum anomalies, small posterior fossa, and a deep left Sylvian fissure; as well as asymmetry of the uncinate and arcuate fascicles and marked increased cortical thickness. These results suggest that structural neuroimaging anomalies have been previously overlooked, where corpus callosum and brain tract alterations might be unrecognized neuroimaging traits of TBRS syndrome caused by\n                    <jats:italic>DNMT3A<\/jats:italic>\n                    variants.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63434","type":"journal-article","created":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T15:48:11Z","timestamp":1696520891000},"page":"211-217","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>Tatton\u2010Brown\u2013Rahman<\/scp>\n                    syndrome: Novel pathogenic variants and new neuroimaging findings"],"prefix":"10.1002","volume":"194","author":[{"given":"Mar","family":"Jim\u00e9nez de la Pe\u00f1a","sequence":"first","affiliation":[{"name":"Department of Neuroimaging Hospital Universitario Quir\u00f3nsalud  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2562-5982","authenticated-orcid":false,"given":"Irene","family":"Rinc\u00f3n\u2010P\u00e9rez","sequence":"additional","affiliation":[{"name":"Faculty of Psychology Universidad Aut\u00f3noma de Madrid  Madrid Spain"},{"name":"Universidad Complutense de Madrid  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"L\u00f3pez\u2010Mart\u00edn","sequence":"additional","affiliation":[{"name":"Faculty of Psychology Universidad Aut\u00f3noma de Madrid  Madrid Spain"},{"name":"Neuromottiva  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6538-9801","authenticated-orcid":false,"given":"Jacobo","family":"Albert","sequence":"additional","affiliation":[{"name":"Faculty of Psychology Universidad Aut\u00f3noma de Madrid  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3470-5140","authenticated-orcid":false,"given":"Daniel","family":"Mart\u00edn Fern\u00e1ndez\u2010Mayoralas","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Hospital Universitario Quir\u00f3nsalud  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Laura","family":"Fern\u00e1ndez\u2010Perrone","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Hospital Universitario Quir\u00f3nsalud  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Jim\u00e9nez de Domingo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Hospital Universitario Quir\u00f3nsalud  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Tirado","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Hospital Universitario La Paz  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Calleja\u2010P\u00e9rez","sequence":"additional","affiliation":[{"name":"Pediatric Primary Care. C. S. Doctor Cirajas  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Porta","sequence":"additional","affiliation":[{"name":"Department of Genomics Genologica  M\u00e1laga Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Department of Genomics and Medicine NIMGenetics  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3306-9832","authenticated-orcid":false,"given":"Alberto","family":"Fern\u00e1ndez\u2010Ja\u00e9n","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Hospital Universitario Quir\u00f3nsalud  Madrid Spain"},{"name":"School of Medicine Universidad Europea de Madrid  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,10,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mri.2011.07.012"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/hbm.24726"},{"key":"e_1_2_10_4_1","unstructured":"Barnby J. Burgess H. Dean R. MacKenzie L. Robinson G. Dayan P. &Richards L.(2022).Bridging the divide: Elucidating the social and cognitive impact of corpus callosum dysgenesis. Paper presented at the 51st Annual Meeting of the Society for Neuroscience (Neuroscience 2022)."},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.26508\/lsa.201800153"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1266-11.2011"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2021.09.008"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30163"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-022-09469-3"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2011.01490.x"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2010.01.083"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/hbm.25364"},{"issue":"2","key":"e_1_2_10_13_1","first-page":"263","article-title":"Visual\u2010vestibular processing in the human","volume":"116","author":"Frank S. 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