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 29 março 2025


PDF) First case report of inherited Rubinstein-Taybi syndrome

PDF) First case report of inherited Rubinstein-Taybi syndrome

Clinical exome sequencing identifies novel CREBBP variants in 18

PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome

Phenotype and genotype in 52 patients with Rubinstein–Taybi

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

Maternally inherited autosomal dominant intellectual disability

Brain size regulations by cbp haploinsufficiency evaluated by in

PDF] Rubinstein-Taybi Syndrome Associated with Pituitary

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian

Brain size regulations by cbp haploinsufficiency evaluated by in

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With

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
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