Article
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
American journal of medical genetics. Part A - 1 Dec 2020
Cohen Jennifer L, Schrier Vergano Samantha A, Mazzola Sarah, Strong Alanna, Keena Beth, McDougall Carey, Ritter Alyssa, Li Dong, Bedoukian Emma C, Burke Leah W, Hoffman Amber, Zurcher Victoria, Krantz Ian D, Izumi Kosuke, Bhoj Elizabeth, Zackai Elaine H, Deardorff Matthew A
Abstract excerpt
Pathogenic variants in the homologous and highly conserved genes-CREBBP and EP300-are causal for Rubinstein-Taybi syndrome (RSTS). CREBBP and EP300 encode histone acetyltransferases (HAT) that act as transcriptional co-activators, and their haploinsufficiency causes the pathology characteristic of RSTS by interfering with global transcriptional regulation. Though generally a well-characterized syndrome, there is...
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