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 de novo EP300 and PLAU variants in a patient

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

PDF) First case report of inherited Rubinstein-Taybi syndrome

PDF) First case report of inherited Rubinstein-Taybi syndrome

PDF) First case report of inherited Rubinstein-Taybi syndrome

First case report of inherited Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome in a Saudi boy with distinct features

CREBBP mutations in individuals without Rubinstein–Taybi syndrome

Rubinstein–Taybi syndrome: clinical and molecular overview

PDF) First case report of inherited Rubinstein-Taybi syndrome

A novel CREBBP mutation and its phenotype in a case of Rubinstein