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Results 1 - 6 of 6 for "Rubinstein-Taybi" syndrome
  1. Rubinstein-Taybi syndrome 
    Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
  2. CREBBP gene 
    ... the CREBBP gene have been found to cause Rubinstein-Taybi syndrome, a condition characterized by short stature, moderate to ... the CREBBP gene is altered in people with Rubinstein-Taybi syndrome, their cells make only half of the normal ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  3. EP300 gene 
    ... EP300 gene have been identified in people with Rubinstein-Taybi syndrome, a condition characterized by short stature, moderate to ... this protein leads to the specific features of Rubinstein-Taybi syndrome, it is clear that changes in the EP300 ...
    https://medlineplus.gov/genetics/gene/ep300 - Genetics
  4. Chromosome 16 
    ... About This Health Condition Some cases of severe Rubinstein-Taybi syndrome (sometimes known as chromosome 16p13.3 deletion syndrome) ... also have many of the typical features of Rubinstein-Taybi syndrome, including intellectual disability, distinctive facial features, and broad ...
    https://medlineplus.gov/genetics/chromosome/16 - Genetics
  5. Floating-Harbor syndrome 
    ... and symptoms of Floating-Harbor syndrome is unknown. Rubinstein-Taybi syndrome, a disorder with similar features, is caused by ...
    https://medlineplus.gov/genetics/condition/floating-harbor-syndrome - Genetics
  6. Pilomatricoma 
    ... which is a form of muscular dystrophy; and Rubinstein-Taybi syndrome, which is a condition that affects many parts ...
    https://medlineplus.gov/genetics/condition/pilomatricoma - Genetics