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Results 1 - 1 of 1 for "Rubinstein-Taybi" syndrome due to EP300 haploinsufficiency
  1. Rubinstein-Taybi syndrome 
    ... syndrome due to CREBBP mutations Genetic Testing Registry: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics