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.
Revista:
BMC Medical Genetics

ISSN: 1471-2350

Any de publicació: 2016

Volum: 17

Número: 1

Tipus: Article

DOI: 10.1186/S12881-016-0361-8 GOOGLE SCHOLAR lock_openAccés obert editor
Font de les dades: Scopus