{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T22:51:32Z","timestamp":1767912692146,"version":"3.49.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,24]]},"DOI":"10.7759\/cureus.32902","type":"journal-article","created":{"date-parts":[[2022,12,24]],"date-time":"2022-12-24T16:06:30Z","timestamp":1671897990000},"source":"Crossref","is-referenced-by-count":3,"title":["Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature"],"prefix":"10.7759","author":[{"given":"Tania","family":"Siu Xiao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuliana","family":"Colombari Arce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreina","family":"Rojas Marron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guadalupe A","family":"Benitez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Schwanecke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104360","article-title":"Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature","volume":"54","author":"Balasubramanian M","year":"2017","unstructured":"Balasubramanian M, Willoughby J, Fry AE, et al.. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. J Med Genet. 2017, 54:537-43. 10.1136\/jmedgenet-2016-104360","journal-title":"J Med Genet"},{"key":"ref2","article-title":"ASXL3-Related Disorder","author":"Balasubramanian M","year":"1993","unstructured":"Balasubramanian M, Schirwani S. ASXL3-Related Disorder. Adam MP, Everman DB, Mirzaa GM, et al. (ed): GeneReviews, Seattle; 1993."},{"key":"ref3","unstructured":"Bainbridge Ropers syndrome. (2021). Accessed. October 16, 2022: https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?lng=EN&amp;Expert=352577."},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-020-02027-7","article-title":"Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: clinical abnormalities, medical imaging features, and gene variation in infancy of case report","volume":"20","author":"Yang L","year":"2020","unstructured":"Yang L, Guo B, Zhu W, Wang L, Han B, Che Y, Guo L. Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: clinical abnormalities, medical imaging features, and gene variation in infancy of case report. BMC Pediatr. 2020, 20:287. 10.1186\/s12887-020-02027-7","journal-title":"BMC Pediatr"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/gm415","article-title":"De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome","volume":"5","author":"Bainbridge MN","year":"2013","unstructured":"Bainbridge MN, Hu H, Muzny DM, et al.. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013, 5:11. 10.1186\/gm415","journal-title":"Genome Med"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a002410","article-title":"A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome","volume":"4","author":"Koboldt DC","year":"2018","unstructured":"Koboldt DC, Mihalic Mosher T, Kelly BJ, et al.. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Cold Spring Harb Mol Case Stud. 2018, 4:10.1101\/mcs.a002410","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1924","article-title":"De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: a case report and review of literature","volume":"10","author":"Wang Q","year":"2022","unstructured":"Wang Q, Zhang J, Jiang N, Xie J, Yang J, Zhao X. De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: a case report and review of literature. Mol Genet Genomic Med. 2022, 10:e1924. 10.1002\/mgg3.1924","journal-title":"Mol Genet Genomic Med"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-022-02573-w","article-title":"A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management","volume":"22","author":"Khan TR","year":"2022","unstructured":"Khan TR, Dolce A, Goodspeed K. A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management. BMC Neurol. 2022, 22:60. 10.1186\/s12883-022-02573-w","journal-title":"BMC Neurol"},{"key":"ref9","article-title":"Fragile X Syndrome","author":"Stone WL","year":"2022","unstructured":"Stone WL, Basit H, Los E. Fragile X Syndrome. StatPearls, Treasure Island; 2022."},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-015-1111-6","article-title":"Patterns of chromosomal copy-number alterations in intrahepatic cholangiocarcinoma","volume":"15","author":"Dalmasso C","year":"2015","unstructured":"Dalmasso C, Carpentier W, Guettier C, et al.. Patterns of chromosomal copy-number alterations in intrahepatic cholangiocarcinoma. BMC Cancer. 2015, 15:126. 10.1186\/s12885-015-1111-6","journal-title":"BMC Cancer"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh230","article-title":"Corpus callosum size and very preterm birth: relationship to neuropsychological outcome","volume":"127","author":"Nosarti C","year":"2004","unstructured":"Nosarti C, Rushe TM, Woodruff PW, Stewart AL, Rifkin L, Murray RM. Corpus callosum size and very preterm birth: relationship to neuropsychological outcome. Brain. 2004, 127:2080-9. 10.1093\/brain\/awh230","journal-title":"Brain"},{"key":"ref12","doi-asserted-by":"crossref","unstructured":"Corpus Callosum Isthmus. (2021). Accessed. November 28, 2022: https:\/\/doi.org\/10.53347\/rID-94363.","DOI":"10.53347\/rID-94363"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/123747-bainbridge-ropers-syndrome-in-a-texan-boy-a-case-report-and-review-of-the-literature","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:46:56Z","timestamp":1707508016000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/123747-bainbridge-ropers-syndrome-in-a-texan-boy-a-case-report-and-review-of-the-literature"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,24]]},"references-count":12,"URL":"https:\/\/doi.org\/10.7759\/cureus.32902","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2022,12,24]]}}}