Associated Papers
Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review.
Wang Y et al.
Frontiers in Genetics, 2025
Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein-Taybi syndrome type 2 in Chinese patients.
Zhang Q et al.
Frontiers in Genetics, 2025
[A case of Rubinstein-Taybi syndrome caused by a variant of EP300 gene].
Yang B et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Select a paper to view details