{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:49:16Z","timestamp":1790833756488,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,12,14]],"date-time":"2009-12-14T00:00:00Z","timestamp":1260748800000},"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":[[2010,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rubinstein\u2013Taybi syndrome (RTS) is characterized by mental retardation, broad thumbs and great toes and a recognizable craniofacial phenotype. Causative mutations have been described in the <jats:italic>CREBBP<\/jats:italic> and <jats:italic>EP300<\/jats:italic> genes. Here we present a 19\u2010year\u2010old woman and an unrelated 3\u2010year\u2010old boy, both with broad thumbs and halluces, but with facial aspects distinct from those of typical RTS. The woman had a marked learning disability, but no mental retardation. We identified a de novo c.7100delC mutation in <jats:italic>EP300<\/jats:italic> (which predicts p.P2366RfsX35) in the woman and an apparently de novo c.638delG mutation in the boy, which predicts p.G213EfsX6. Mutations in <jats:italic>EP300<\/jats:italic> are a known but rare cause of RTS. Only five other patients have been reported. We propose that individuals with <jats:italic>EP300<\/jats:italic> mutations may exhibit a slightly different phenotype compared to individuals with <jats:italic>CREBBP<\/jats:italic> mutations, with milder cognitive impairment, more pronounced microcephaly, absent or mild downslanting of palpebral fissures, distinct arched eyebrows, and greater degree of retrognathia. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33153","type":"journal-article","created":{"date-parts":[[2009,12,14]],"date-time":"2009-12-14T21:51:54Z","timestamp":1260827514000},"page":"181-184","source":"Crossref","is-referenced-by-count":63,"title":["Two patients with <i>EP300<\/i> mutations and facial dysmorphism different from the classic Rubinstein\u2013Taybi syndrome"],"prefix":"10.1002","volume":"152A","author":[{"given":"Oliver","family":"Bartsch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janette","family":"Labont\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"Albrecht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Wieczorek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislav","family":"Lechno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Zechner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Haaf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,12,23]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046698"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-1331-y"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.415"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32771"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcp.2004.03.045"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.11.003"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/429130"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370609"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201791"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33153","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33153","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T20:35:21Z","timestamp":1697056521000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33153"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12,23]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["10.1002\/ajmg.a.33153"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33153","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,12,23]]}}}