First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open

Identification of 22q11.2 deletion in a patient with schizophrenia

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PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome

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PDF) First case report of inherited Rubinstein-Taybi syndrome

PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome

Hyperinsulinism in an individual with an EP300 variant of