{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T10:39:40Z","timestamp":1772015980747,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,3,24]],"date-time":"2014-03-24T00:00:00Z","timestamp":1395619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>The important roles that T\u2010box genes play in the morphogenesis of the heart and its conduction system has long been established, and a number of disorders are linked to mutations in these T\u2010box genes. Holt\u2013Oram syndrome (HOS), the classic heart and hand syndrome, is clinically typified by radial ray upper limb abnormalities and cardiac malformations, and is caused by mutations involving <jats:italic>TBX5<\/jats:italic>. Another member of the T\u2010box gene family, <jats:italic>TBX3<\/jats:italic>, is found in close proximity to <jats:italic>TBX5<\/jats:italic> on chromosome 12q24. Mutations in <jats:italic>TBX3<\/jats:italic> cause ulnar\u2013mammary syndrome (UMS), which is distinguished by upper limb malformations affecting the ulnar ray, apocrine, and mammary gland hypoplasia, and genital defects. While disorders involving isolated mutations of <jats:italic>TBX5<\/jats:italic> and <jats:italic>TBX3<\/jats:italic> have been well described, contiguous deletions of these T\u2010box genes remain exceptional. We report on a patient with features of both HOS and UMS consisting of bilateral symmetric limb malformations, congenital cardiac defects, and rapidly progressive cardiac conduction disease. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36447","type":"journal-article","created":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T02:51:47Z","timestamp":1395715907000},"page":"1304-1309","source":"Crossref","is-referenced-by-count":16,"title":["Phenotype of a patient with contiguous deletion of <i>TBX5<\/i> and <i>TBX3<\/i>: Expanding the disease spectrum"],"prefix":"10.1002","volume":"164","author":[{"given":"Soujanya","family":"Bogarapu","sequence":"first","affiliation":[{"name":"Division of Pediatric Cardiology Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven B.","family":"Bleyl","sequence":"additional","affiliation":[{"name":"Division of 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