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 08 junho 2024
First case report of inherited Rubinstein-Taybi syndrome
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome
Mosby's 2021 Nursing Drug Reference / Edition 34 by Linda Skidmore
Phenotype and genotype in 52 patients with Rubinstein–Taybi
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Case report: a Chinese girl like atypical Rubinstein–Taybi
Brain size regulations by cbp haploinsufficiency evaluated by in
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Clinical exome sequencing identifies novel CREBBP variants in 18
Brain size regulations by cbp haploinsufficiency evaluated by in
PDF) First case report of inherited Rubinstein-Taybi syndrome
New insights into genetic variant spectrum and genotype–phenotype
Rubinstein–Taybi syndrome in diverse populations - Tekendo
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