Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

Lopez M, Garcia-Oguiza A, Armstrong J, Garcia-Cobaleda I, Garcia-Minaur S, Santos-Simarro F, Seidel V, Dominguez-Garrido E. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum. BMC Med Genet. 2018 Mar 5;19(1):36. doi: 10.1186/s12881-018-0548-2.

PubMed ID: 
29506490