{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T04:40:41Z","timestamp":1694666441880},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,10]]},"DOI":"10.1097\/mcd.0000000000000290","type":"journal-article","created":{"date-parts":[[2019,9,5]],"date-time":"2019-09-05T10:03:10Z","timestamp":1567677790000},"page":"215-218","source":"Crossref","is-referenced-by-count":2,"title":["TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome"],"prefix":"10.1097","volume":"28","author":[{"given":"Pamela","family":"Si-Min Ng","sequence":"first","affiliation":[{"name":"Paediatrics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shazia","family":"Khan","sequence":"additional","affiliation":[{"name":"Ophthalmology, KK Women\u2019s and Children\u2019s Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiin Ying","family":"Lim","sequence":"additional","affiliation":[{"name":"Genetics Service, Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasmine","family":"Chew-Yin Goh","sequence":"additional","affiliation":[{"name":"Genetics Service, Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grace Xiulin","family":"Lin","sequence":"additional","affiliation":[{"name":"Genetics Service, Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heming","family":"Wei","sequence":"additional","affiliation":[{"name":"Genetics Service, Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ene Choo","family":"Tan","sequence":"additional","affiliation":[{"name":"Genetics Service, Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital"},{"name":"Paediatrics Academic Clinical Programme, Duke-NUS Medical School"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saumya Shekhar","family":"Jamuar","sequence":"additional","affiliation":[{"name":"Paediatrics"},{"name":"Genetics Service, Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital"},{"name":"Paediatrics Academic Clinical Programme, Duke-NUS Medical School"},{"name":"Institute of Precision Medicine, Singhealth Duke-NUS Medical School, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-20230913","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation.","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"R2-20230913","doi-asserted-by":"crossref","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"},{"key":"R3-20230913","doi-asserted-by":"crossref","first-page":"1692","DOI":"10.1038\/s41436-018-0142-1","article-title":"Correction: population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.","volume":"20","author":"Bylstra","year":"2018","journal-title":"Genet Med"},{"key":"R4-20230913","doi-asserted-by":"crossref","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":"R7-20230913","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"Clinvar: public archive of relationships among sequence variation and human phenotype.","volume":"42","author":"Landrum","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"R8-20230913","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans.","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"R9-20230913","doi-asserted-by":"crossref","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":"R10-20230913","article-title":"Branchiooculofacial Syndrome. [Updated 2018 Mar 29].","author":"Lin","year":"2011","journal-title":"GeneReviews\u00ae [Internet] 1993-2019"},{"key":"R11-20230913","doi-asserted-by":"crossref","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":"R12-20230913","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/S0165-5876(00)00310-4","article-title":"Branchio-oculo-facial syndrome.","volume":"53","author":"Raveh","year":"2008","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"R13-20230913","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"R14-20230913","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","article-title":"The human gene mutation database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.","volume":"133","author":"Stenson","year":"2014","journal-title":"Hum Genet"},{"key":"R15-20230913","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/ajmg.a.32619","article-title":"A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.","volume":"149A","author":"Tekin","year":"2009","journal-title":"Am J Med Genet A"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000290","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T21:04:42Z","timestamp":1694639082000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000290"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0000000000000290","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2019,10]]}}}