First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
- López, M.
- Seidel, V.
- Santibáñez, P.
- Cervera-Acedo, C.
- Castro-de Castro, P.
- Domínguez-Garrido, E.
Zeitschrift:
BMC Medical Genetics
ISSN: 1471-2350
Datum der Publikation: 2016
Ausgabe: 17
Nummer: 1
Art: Artikel