{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T22:44:52Z","timestamp":1759099492152},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2008,3,19]],"date-time":"2008-03-19T00:00:00Z","timestamp":1205884800000},"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":[[2008,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Holt\u2013Oram syndrome (HOS) (OMIM 142900) is characterized by upper\u2010extremity malformations involving the radial, thenar, or carpal bones and a personal and\/or family history of congenital heart defects (CHDs). It is inherited in an autosomal dominant manner. The <jats:italic>TBX5<\/jats:italic> gene located on chromosome 12 (12q24.1) is the only gene currently known to be associated with HOS and is associated with variable phenotypes. We report on the clinical and molecular characterization of a HOS family with three affected individuals and a novel mutation (Lys88ter). We discuss genotype\u2013phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32170","type":"journal-article","created":{"date-parts":[[2008,3,19]],"date-time":"2008-03-19T19:24:13Z","timestamp":1205954653000},"page":"1185-1189","source":"Crossref","is-referenced-by-count":13,"title":["Holt\u2013Oram syndrome associated with anomalies of the feet"],"prefix":"10.1002","volume":"146A","author":[{"given":"L.","family":"Garavelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"De Brasi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Verri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Guareschi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Cariola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Melis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Calcagno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Salvatore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Unger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Sebastio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Albertini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Rivieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Soli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Superti\u2010Furga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Gentile","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,3,19]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199403313301302"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.6.2919"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9449"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/376436"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9375"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-200212000-00008"},{"key":"e_1_2_5_8_1","first-page":"153","article-title":"Pedigree analysis and descriptive investigation of three classic phenotypes associated with Holt\u2010Oram syndrome","volume":"48","author":"Lehner R","year":"2003","journal-title":"J Reprod Med"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-21"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.192601"},{"key":"e_1_2_5_11_1","unstructured":"McDermottDA BassonCT.2006.Holt\u2010Oram syndrome. 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