{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T07:33:59Z","timestamp":1762673639327},"reference-count":28,"publisher":"Wiley","issue":"18","license":[{"start":{"date-parts":[[2007,8,13]],"date-time":"2007-08-13T00:00:00Z","timestamp":1186963200000},"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":[[2007,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rubinstein\u2013Taybi syndrome is a well\u2010characterized genetic syndrome caused by haploinsufficiency of <jats:italic>CBP<\/jats:italic> in a majority of individuals. In 10% of cases a microdeletion in 16p13.3 affecting <jats:italic>CBP<\/jats:italic> is detected. We report on a patient with a de novo 345\u2013480 kb micro\u2010duplication the region, encompassing only <jats:italic>CBP<\/jats:italic> and <jats:italic>TRAP1<\/jats:italic>. This boy presented with various minor physical anomalies, moderate mental retardation, and an atrial septal defect, but none of the other typical characteristics of the Rubinstein\u2013Taybi syndrome, such as the broad thumbs and first toes or facial characteristics. This finding implicates <jats:italic>CBP<\/jats:italic> as one of the causative genes for the trisomy 16p13 syndrome, and indicates this is a contiguous gene syndrome. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31893","type":"journal-article","created":{"date-parts":[[2007,8,13]],"date-time":"2007-08-13T20:16:36Z","timestamp":1187036196000},"page":"2160-2164","source":"Crossref","is-referenced-by-count":20,"title":["A microduplication of <i>CBP<\/i> in a patient with mental retardation and a congenital heart defect"],"prefix":"10.1002","volume":"143A","author":[{"given":"Bernard","family":"Thienpont","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeroen","family":"Breckpot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maureen","family":"Holvoet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joris 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