Associated Papers
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.
Cross E et al.
American Journal of Medical Genetics. Part A, 2020
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
López M et al.
Bmc Medical Genetics, 2018
Select a paper to view details