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

New insights into genetic variant spectrum and genotype–phenotype

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

Brain size regulations by cbp haploinsufficiency evaluated by in

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Long-read sequencing to reclassify variants of uncertain

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With

Brain size regulations by cbp haploinsufficiency evaluated by in

PDF) First case report of inherited Rubinstein-Taybi syndrome

PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome

Identification of de novo EP300 and PLAU variants in a patient