{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:04Z","timestamp":1786976824204,"version":"build-2736575974"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,21]],"date-time":"2020-01-21T00:00:00Z","timestamp":1579564800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Tatton\u2010Brown Rahman syndrome (TBRS) is an overgrowth\u2010intellectual disability syndrome caused by heterozygous variants in\n                    <jats:italic>DNMT3A<\/jats:italic>\n                    . Seventy\u2010eight individuals have been reported with a consistent phenotype of somatic overgrowth, mild to moderate intellectual disability, and similar dysmorphisms. We present six individuals with TBRS, including the youngest individual thus far reported, first individual to be diagnosed with tumor testing and two individuals with variants at the Arg882 domain, bringing the total number of reported cases to 82. Patients reported herein have additional clinical features not previously reported in TBRS. One patient had congenital diaphragmatic hernia. One patient carrying the recurrent p.Arg882His\n                    <jats:italic>DNMT3A<\/jats:italic>\n                    variant, who was previously reported as having a phenotype due to a truncating variant in the\n                    <jats:italic>CLTC<\/jats:italic>\n                    gene, developed a ganglioneuroblastoma at 18\u2009months and T\u2010cell lymphoblastic lymphoma at 6\u2009years of age. Four patients manifested symptoms suggestive of autonomic dysfunction, including central sleep apnea, postural orthostatic hypotension, and episodic vasomotor instability in the extremities. We discuss the molecular and clinical findings in our patients with TBRS in context of existing literature.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61475","type":"journal-article","created":{"date-parts":[[2020,1,21]],"date-time":"2020-01-21T07:38:45Z","timestamp":1579592325000},"page":"673-680","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Tatton\u2010Brown\u2010Rahman syndrome: Six individuals with novel features"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5409-8387","authenticated-orcid":false,"given":"Tugce B.","family":"Balci","sequence":"first","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alana","family":"Strong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1500-9713","authenticated-orcid":false,"given":"Jennifer M.","family":"Kalish","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Zackai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Maris","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Oncology Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Reilly","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Oncology Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea F.","family":"Surrey","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald B.","family":"Wertheim","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien L.","family":"Marcadier","sequence":"additional","affiliation":[{"name":"Department of Genetics Alberta Children's Hospital Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail E.","family":"Graham","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7211-3731","authenticated-orcid":false,"given":"Melissa T.","family":"Carter","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a030320"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<234::AID-AJMG2>3.0.CO;2-M"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37506"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1564440"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.09.008"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104574"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/cbic.201000195"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000484532"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37995"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38119"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1005143"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37588"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38485"},{"key":"e_1_2_8_15_1","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.61180","article-title":"The first case report of medulloblastoma associated with Tatton\u2010Brown\u2013Rahman syndrome","volume":"179","author":"Sweeney K. 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