First case report of inherited Rubinstein-Taybi syndrome...

First case report of inherited Rubinstein-Taybi syndrome associated with a novelEP300variant

López, María, Seidel, Verónica, Santibáñez, Paula, Cervera-Acedo, Cristina, Castro-de Castro, Pedro, Domínguez-Garrido, Elena
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Volume:
17
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-016-0361-8
Date:
December, 2016
File:
PDF, 583 KB
english, 2016
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