{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T20:40:02Z","timestamp":1777581602370,"version":"3.51.4"},"reference-count":28,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2020,7,24]],"date-time":"2020-07-24T00:00:00Z","timestamp":1595548800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100012542","name":"sichuan province science and technology support program","doi-asserted-by":"publisher","award":["2019YFS0247"],"award-info":[{"award-number":["2019YFS0247"]}],"id":[{"id":"10.13039\/100012542","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81800863"],"award-info":[{"award-number":["81800863"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>To identify disease associated mutations in a male infant with congenital heart defects and heterochromia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>A detailed clinical examination and routine laboratory tests were performed on the patient. We applied whole exome sequencing to identify the causal mutation on the proband and other family members.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The patient presented with severe congenital heart disease, strabismus, and pigment disturbances of the iris. We identified a deletion of 1.99 megabase [arr[hg19]22q12.3-13.1 (chr22:36656004-38643920) *1], including SOX10 and 13 RefSeq genes on this patient, which was associated with atypical Waardenburg syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Our results suggest that a deletion of 1.99 megabase (including SOX10) acts as a dominant pathogenic variant on the clinical presentations of this patient with atypical Waardenburg syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/1120672120944350","type":"journal-article","created":{"date-parts":[[2020,7,24]],"date-time":"2020-07-24T04:15:28Z","timestamp":1595564128000},"page":"2127-2134","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["22q12.3-q13.1 microdeletion including\n                    <i>SOX10<\/i>\n                    causes atypical Waardenburg syndrome"],"prefix":"10.1177","volume":"31","author":[{"given":"Wenqiu","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China"},{"name":"Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lirong","family":"Xiao","sequence":"additional","affiliation":[{"name":"Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bingjie","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingwen","family":"Xu","sequence":"additional","affiliation":[{"name":"Beijing GeneX Life Technology Co., Ltd, Haidian District, Beijing, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naihong","family":"Yan","sequence":"additional","affiliation":[{"name":"Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,7,24]]},"reference":[{"key":"bibr1-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2014.03.014"},{"key":"bibr2-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2017.03.016"},{"issue":"3","key":"bibr3-1120672120944350","first-page":"195","volume":"3","author":"Waardenburg PJ","year":"1951","journal-title":"Am J Hum Genet"},{"key":"bibr4-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32189"},{"key":"bibr5-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1086\/522090"},{"key":"bibr6-1120672120944350","doi-asserted-by":"publisher","DOI":"10.5223\/pghn.2019.22.5.487"},{"issue":"3","key":"bibr7-1120672120944350","first-page":"1775","volume":"19","author":"Ma J","year":"2019","journal-title":"Mol Med Rep"},{"key":"bibr8-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw227"},{"key":"bibr9-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp394"},{"key":"bibr10-1120672120944350","author":"Garrison E","year":"2012","journal-title":"Quantitative Biology"},{"key":"bibr11-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"bibr12-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"bibr13-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw491"},{"key":"bibr14-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0686-8"},{"key":"bibr15-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.07.002"},{"key":"bibr16-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36446"},{"key":"bibr17-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36425"},{"key":"bibr18-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.118.038514"},{"key":"bibr19-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22499"},{"key":"bibr20-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12506"},{"key":"bibr21-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2017.06.005"},{"key":"bibr22-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38657"},{"key":"bibr23-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy029"},{"key":"bibr24-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2013.04.024"},{"key":"bibr25-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp520"},{"key":"bibr26-1120672120944350","doi-asserted-by":"publisher","DOI":"10.3390\/jdb5040017"},{"key":"bibr27-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2012.04.009"},{"key":"bibr28-1120672120944350","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2014.09.011"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1120672120944350","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1120672120944350","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1120672120944350","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T19:46:01Z","timestamp":1777405561000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1120672120944350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,24]]},"references-count":28,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1177\/1120672120944350"],"URL":"https:\/\/doi.org\/10.1177\/1120672120944350","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,24]]}}}