First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
Crossref DOI link: https://0-doi-org.brum.beds.ac.uk/10.1186/s12881-016-0361-8
Published Online: 2016-12-13
Published Print: 2016-12
Update policy: https://0-doi-org.brum.beds.ac.uk/10.1007/springer_crossmark_policy
López, María
Seidel, Verónica
Santibáñez, Paula
Cervera-Acedo, Cristina
Castro-de Castro, Pedro
Domínguez-Garrido, Elena
License valid from 2016-12-01