Identification of de novo EP300 and PLAU variants in a patient

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Skeletal findings of patients carrying mutations of the EP300 gene

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Genes, Free Full-Text

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

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Figure 2 from De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly