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
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Maternally inherited autosomal dominant intellectual disability
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome
Genes, Free Full-Text
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with
A novel CREBBP mutation and its phenotype in a case of Rubinstein
High frequency of copy number imbalances in Rubinstein–Taybi
Brain size regulations by cbp haploinsufficiency evaluated by in
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