First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

  1. López, M.
  2. Seidel, V.
  3. Santibáñez, P.
  4. Cervera-Acedo, C.
  5. Castro-de Castro, P.
  6. Domínguez-Garrido, E.
Journal:
BMC Medical Genetics

ISSN: 1471-2350

Year of publication: 2016

Volume: 17

Issue: 1

Type: Article

DOI: 10.1186/S12881-016-0361-8 GOOGLE SCHOLAR lock_openOpen access editor
Data source: Scopus