{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T10:13:59Z","timestamp":1784110439195,"version":"3.55.0"},"reference-count":26,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Rubinstein-Taybi syndrome (RSTS) is a multisystem developmental disorder characterized by facial dysmorphisms, broad thumbs and halluces, growth retardation, and intellectual disability. In about 8% of RSTS cases, mutations are found in &lt;i&gt;EP300&lt;\/i&gt;. Previously, the &lt;i&gt;EP300&lt;\/i&gt; mutation has been shown to cause the highly variable RSTS phenotype. Using exome sequencing, we identified a de novo &lt;i&gt;EP300&lt;\/i&gt; frameshift mutation in a proband with coloboma, facial asymmetry and imperforate anus with minimal RSTS features. Previous molecular studies have demonstrated the importance of EP300 in oculogenesis, supporting the possibility that &lt;i&gt;EP300&lt;\/i&gt; mutation may cause ocular coloboma. Since a wide phenotypic spectrum is well known in &lt;i&gt;EP300&lt;\/i&gt;-associated RSTS cases, the atypical phenotype identified in our proband may be an example of rare manifestations of RSTS.<\/jats:p>","DOI":"10.1159\/000375542","type":"journal-article","created":{"date-parts":[[2015,3,3]],"date-time":"2015-03-03T09:01:10Z","timestamp":1425373270000},"page":"99-103","source":"Crossref","is-referenced-by-count":11,"title":["Exome Sequencing Identification of &lt;b&gt;&lt;i&gt;EP300&lt;\/i&gt;&lt;\/b&gt; Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi 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