\"Rubinstein-Taybi Syndrome\" \u2013\u00a0What Is It?<\/h2><\/div>
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Rubinstein-Taybi syndrome (RSTS) is a disorder caused by pathogenic variants<\/span>, i.e.,\u00a0genetic changes in the\u00a0CREBBP<\/em>\u00a0or\u00a0EP300 <\/em>gene. It is characterized by a characteristic face shape, broad and often angled thumbs and big toes, short stature,<\/span>\u00a0and intellectual impairment.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>
Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>
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Rubinstein-Taybi Syndrome \u2013 What Is It? (This Section)<\/div><\/li><\/ul><\/div><\/div>