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
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
López M et al.
Bmc Medical Genetics, 2018
Benign and malignant tumors in Rubinstein-Taybi syndrome.
Boot MV et al.
American Journal of Medical Genetics. Part A, 2018
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P et al.
American Journal of Medical Genetics. Part A, 2016
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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