{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T19:50:25Z","timestamp":1778874625355,"version":"3.51.4"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T00:00:00Z","timestamp":1594944000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"DOI":"10.3389\/fped.2020.00380","type":"journal-article","created":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T13:37:18Z","timestamp":1594993038000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report"],"prefix":"10.3389","volume":"8","author":[{"given":"Jie","family":"Min","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing","family":"Mao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuelian","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuyang","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hairong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,7,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1597\/1545-1569_1991_028_0096_tbofs_2.3.co_2","article-title":"The branchio-oculo-facial syndrome","volume":"28","author":"Lin","year":"1991","journal-title":"Cleft Palate Craniofac J."},{"key":"B2","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1002\/ajmg.1320560112","article-title":"Further delineation of the branchio-oculo-facial syndrome","volume":"56","author":"Lin","year":"1995","journal-title":"Am J Med Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1171","DOI":"10.1016\/j.ajhg.2008.03.005","article-title":"TFAP2A mutations result in branchio-oculo-facial syndrome","volume":"82","author":"Milunsky","year":"2008","journal-title":"Am J Hum Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"2141","DOI":"10.1002\/ajmg.a.33015","article-title":"Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFSS) and report of temporal bone anomalies","author":"Stoetzel","year":"2009","journal-title":"Am J Med Genet A."},{"key":"B5","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1111\/ahg.12098","article-title":"A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A","volume":"79","author":"Meshcheryakova","year":"2015","journal-title":"Ann Hum Genet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1186\/gb-2005-6-13-246","article-title":"The AP-2 family of transcription factors","volume":"6","author":"Eckert","year":"2005","journal-title":"Genome Biol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"dev172387","DOI":"10.1242\/dev.172387","article-title":"Tfap2a is a novel gatekeeper of nephron differentiation during kidney development","volume":"146","author":"Chambers","year":"2019","journal-title":"Development."},{"key":"B8","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1097\/MCD.0000000000000290","article-title":"TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome","volume":"28","author":"Ng","year":"2019","journal-title":"Clin Dysmorphol."},{"key":"B9","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1007\/s00439-009-0730-x","article-title":"Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators","volume":"126","author":"Gestri","year":"2009","journal-title":"Hum Genet."},{"key":"B10","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1002\/ajmg.a.33783","article-title":"Genotype-phenotype analysis of the branchio-oculo-facial syndrome","author":"Milunsky","year":"2011","journal-title":"Am J Med Genet A."},{"key":"B11","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1016\/j.jaapos.2019.01.007","volume":"23","author":"Martens","year":"2019","journal-title":"J Am Assoc Pediatr Ophthalmol Strabis."},{"key":"B12","doi-asserted-by":"publisher","first-page":"11646","DOI":"10.1038\/s41598-018-30151-z","article-title":"Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study","volume":"8","author":"Sun","year":"2018","journal-title":"Sci Rep."},{"key":"B13","doi-asserted-by":"publisher","first-page":"e14860","DOI":"10.1097\/MD.0000000000014860","article-title":"Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform","volume":"98","author":"Sun","year":"2019","journal-title":"Medicine."},{"key":"B14","doi-asserted-by":"publisher","first-page":"1906","DOI":"10.1111\/jcmm.14887","article-title":"Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome","volume":"24","author":"Zhang","year":"2020","journal-title":"J Cell Mol Med."},{"key":"B15","doi-asserted-by":"publisher","first-page":"250","DOI":"10.3109\/13816810.2011.592176","article-title":"A novel TFAP2A mutation in familial branchio-oculo-facial syndrome with predominant ocular phenotype","volume":"32","author":"Aliferis","year":"2011","journal-title":"Ophthalmic Genet."},{"key":"B16","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1597\/10-203","article-title":"Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports","volume":"49","author":"Galliani","year":"2012","journal-title":"Cleft Palate Craniofac J."},{"key":"B17","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1038\/s41439-018-0004-z","article-title":"Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome","volume":"5","author":"Sato","year":"2018","journal-title":"Hum Genome Var."},{"key":"B18","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1097\/MCD.0000000000000056","article-title":"Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality","volume":"24","author":"Titheradge","year":"2015","journal-title":"Clin Dysmorphol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"4174","DOI":"10.1128\/MCB.13.7.4174","article-title":"An alternatively spliced mRNA from the AP-2 gene encodes a negative regulator of transcriptional activation by AP-2","volume":"13","author":"Buettner","year":"1993","journal-title":"Mol Cell Biol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"3195","DOI":"10.1093\/hmg\/ddt173","article-title":"Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2alpha DNA-binding domain","volume":"22","author":"Li","year":"2013","journal-title":"Hum Mol Genet."},{"key":"B21","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1002\/(SICI)1097-0177(199704)208:4<516::AID-AJA7>3.0.CO;2-L","article-title":"Mouse CD-RAP\/MIA gene: structure, chromosomal localization, and expression in cartilage and chondrosarcoma","volume":"13","author":"Bosserhoff","year":"2007","journal-title":"Mol Vis."},{"key":"B22","doi-asserted-by":"publisher","first-page":"100","DOI":"10.3109\/13816810.2011.634878","article-title":"A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene","volume":"33","author":"Dumitrescu","year":"2012","journal-title":"Ophthalmic Genet."},{"key":"B23","first-page":"1215","article-title":"Genetic analysis indicates that transcription factors AP-2alpha and Pax6 cooperate in the normal patterning and morphogenesis of the lens","volume":"13","author":"Makhani","year":"2007","journal-title":"Mol Vis."},{"key":"B24","doi-asserted-by":"publisher","first-page":"1791","DOI":"10.1093\/hmg\/ddq060","article-title":"AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis","volume":"19","author":"Bassett","year":"2010","journal-title":"Hum Mol Genet."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2020.00380\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T13:37:21Z","timestamp":1594993041000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2020.00380\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,17]]},"references-count":24,"alternative-id":["10.3389\/fped.2020.00380"],"URL":"https:\/\/doi.org\/10.3389\/fped.2020.00380","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,17]]},"article-number":"380"}}