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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Case report: a Chinese girl like atypical Rubinstein–Taybi
New insights into genetic variant spectrum and genotype–phenotype
PDF) First case report of inherited Rubinstein-Taybi syndrome
Genes, Free Full-Text
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare
Brain size regulations by cbp haploinsufficiency evaluated by in
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2
Clinical exome sequencing identifies novel CREBBP variants in 18
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome
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