{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:56:28Z","timestamp":1790632588197,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,6,14]],"date-time":"2020-06-14T00:00:00Z","timestamp":1592092800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Nager syndrome is a rare genetic syndrome characterized by craniofacial and preaxial limb anomalies. Haploinsufficiency of the <jats:italic>SF3B4<\/jats:italic> gene has been identified as a significant reason for Nager syndrome. Treacher Collins syndrome (TCS) has similar facial features; however, the <jats:italic>TCOF1<\/jats:italic>, <jats:italic>POLR1D<\/jats:italic>, and <jats:italic>POLR1C<\/jats:italic> genes have been reported as the critical disease\u2010causing genes. Similar phenotypes make it easy to misdiagnose.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case report<\/jats:title><jats:p>In this report, we have presented a case of one newborn with acrofacial dysostosis, who was first diagnosed with TCS. Expanded next\u2010generation sequencing eventually detected a (c.1A&gt;G) heterozygous mutation in the <jats:italic>SF3B4<\/jats:italic> gene at chr1:149899651 that was confirmed by Sanger sequencing. Combined with his preaxial limb anomalies discovered after his death, a diagnosis of Nager syndrome was made.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This report presents one patient with Nager syndrome who was initially misdiagnosed with TCS. Correct genetic testing will be beneficial to future prenatal diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23426","type":"journal-article","created":{"date-parts":[[2020,6,15]],"date-time":"2020-06-15T05:15:44Z","timestamp":1592198144000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Broad\u2010spectrum next\u2010generation sequencing\u2010based diagnosis of a case of Nager syndrome"],"prefix":"10.1002","volume":"34","author":[{"given":"Jue","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Obstetrics Zhejiang Provincial People's Hospital People's Hospital of Hangzhou Medical College Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8817-079X","authenticated-orcid":false,"given":"Liwei","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Zhejiang Provincial People's Hospital People's 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