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Whole exome sequencing (WES) revealed a heterozygous nonsense mutation in exon 8 of the <jats:italic>KAT6A<\/jats:italic> gene (c.1312C&gt;T, p.[Arg438*]) at 2\u00a0months of age. After a diagnosis of ARTHS, an expressive language delay was observed during serial assessments of developmental milestones.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>In this study, we describe a case with a novel <jats:italic>KAT6A<\/jats:italic> variant first identified in Korea. This case broadens the scope of clinical features of ARTHS and emphasizes that WES is necessary for early diagnosis in patients with dysmorphic facial appearances, developmental delay, and other congenital abnormalities.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01148-x","type":"journal-article","created":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T11:12:19Z","timestamp":1639998739000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review"],"prefix":"10.1186","volume":"14","author":[{"given":"Soyoung","family":"Bae","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aram","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9641-5192","authenticated-orcid":false,"given":"Jinsup","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun Ju","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun Kyung","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,12,20]]},"reference":[{"issue":"3","key":"1148_CR1","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1016\/j.ajhg.2015.01.017","volume":"96","author":"VA Arboleda","year":"2015","unstructured":"Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, et al. 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(IRB No. 2019-11-040). A written informed consent was obtained from both parents of the participant.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for the publication of clinical details and any accompanying images was obtained from the both parents of the participant.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no potential conflict of interest relevant to this article.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"297"}}