New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients

  1. Pérez-Grijalba, V.
  2. García-Oguiza, A.
  3. López, M.
  4. Armstrong, J.
  5. García-Miñaur, S.
  6. Mesa-Latorre, J.M.
  7. O'Callaghan, M.
  8. Pineda Marfa, M.
  9. Ramos-Arroyo, M.A.
  10. Santos-Simarro, F.
  11. Seidel, V.
  12. Domínguez-Garrido, E.
Revue:
Molecular Genetics and Genomic Medicine

ISSN: 2324-9269

Année de publication: 2019

Volumen: 7

Número: 11

Type: Article

DOI: 10.1002/MGG3.972 GOOGLE SCHOLAR lock_openAccès ouvert editor