{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T16:20:50Z","timestamp":1770826850790,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T00:00:00Z","timestamp":1612742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nager syndrome epitomizes the acrofacial dysostoses, which are characterized by craniofacial and limb defects. The craniofacial defects include midfacial retrusion, downslanting palpebral fissures, prominent nasal bridge, and micrognathia. Limb malformations typically include hypoplasia or aplasia of radial elements including the thumb. Nager syndrome is caused by haploinsufficiency of <jats:italic>SF3B4<\/jats:italic>, encoding a spliceosomal protein called SAP49. Here, we report a patient with a loss of function variant in <jats:italic>SF3B4<\/jats:italic> without acrofacial dysostosis or limb defects, whose reason for referral was developmental and growth delay. This patient is evidence of a broader phenotypic spectrum associated with <jats:italic>SF3B4<\/jats:italic> variants than previously appreciated.<\/jats:p>","DOI":"10.1002\/ajmg.a.62113","type":"journal-article","created":{"date-parts":[[2021,2,9]],"date-time":"2021-02-09T16:16:11Z","timestamp":1612887371000},"page":"1515-1518","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of <scp><i>SF3B4<\/i><\/scp>\u2010related disease"],"prefix":"10.1002","volume":"185","author":[{"given":"Maxime","family":"Cadieux\u2010Dion","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Children's Mercy Hospitals  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Hughes","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics 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