{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T05:01:22Z","timestamp":1784350882623,"version":"3.55.0"},"reference-count":14,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatology"],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:p>CHARGE syndrome has a clinically broad spectrum of phenotypes, including partial or atypical type. &lt;i&gt;CHD7&lt;\/i&gt; mutation is related to CHARGE syndrome that shows various phenotypes according to the &lt;i&gt;CHD7&lt;\/i&gt; variant. Developments in genetic analysis techniques, such as next-generation sequencing (NGS), are helping both diagnosis and treatment of diseases. We report the case of a preterm infant diagnosed with atypical CHARGE who has a novel and de novo &lt;i&gt;CHD7&lt;\/i&gt; variant that was identified using whole-genome sequencing (WGS). Neonatologists tend to be reluctant to diagnose infants with multiple malformations because they have to focus on treating life-threatening complications; however, NGS is considered helpful for the early diagnosis of broad-spectrum anomalies during the neonatal period.<\/jats:p>","DOI":"10.1159\/000506165","type":"journal-article","created":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T22:00:34Z","timestamp":1583272834000},"page":"374-379","source":"Crossref","is-referenced-by-count":1,"title":["A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel &lt;b&gt;&lt;i&gt;CHD7&lt;\/i&gt;&lt;\/b&gt; Variant Confirmed Using Whole-Genome Sequencing"],"prefix":"10.1159","volume":"117","author":[{"given":"Hyun\u00a0Ho","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ah\u00a0Reum","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nayoung\u00a0K.D.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"So\u00a0Yoon","family":"Ahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Se\u00a0In","family":"Sung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Won\u00a0Soon","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9201-2938","authenticated-orcid":false,"given":"Yun\u00a0Sil","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Woong-Yang","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2020,3,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30559"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087106"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2010.03.019"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31593"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37435"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2010.0101"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1086\/500273"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.10.044"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38085"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-2854"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2015.12249"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2016.08.003"}],"container-title":["Neonatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/506165","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/506165","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:47:48Z","timestamp":1745423268000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000506165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":14,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,11,13]]},"published-print":{"date-parts":[[2020,11,17]]}},"URL":"https:\/\/doi.org\/10.1159\/000506165","archive":["Portico"],"relation":{},"ISSN":["1661-7800","1661-7819"],"issn-type":[{"value":"1661-7800","type":"print"},{"value":"1661-7819","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}