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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Last updated 09 abril 2025


PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2

PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome

First case report of inherited Rubinstein-Taybi syndrome

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare

Brain size regulations by cbp haploinsufficiency evaluated by in

Case report: a Chinese girl like atypical Rubinstein–Taybi

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with

First case of Rubinstein–Taybi syndrome with desquamation
First case report of inherited Rubinstein-Taybi syndrome

PDF) First case report of inherited Rubinstein-Taybi syndrome
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