Associated Papers
Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene.
Bai Z et al.
Bmc Medical Genomics, 2023
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Cohen JL et al.
American Journal of Medical Genetics. Part A, 2020
Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome.
Huh R et al.
Annals of Clinical and Laboratory Science, 2015
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