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Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 431, doi. 10.1111/cge.12537
By:
- Spena, S.;
- Milani, D.;
- Rusconi, D.;
- Negri, G.;
- Colapietro, P.;
- Elcioglu, N.;
- Bedeschi, F.;
- Pilotta, A.;
- Spaccini, L.;
- Ficcadenti, A.;
- Magnani, C.;
- Scarano, G.;
- Selicorni, A.;
- Larizza, L.;
- Gervasini, C.
Publication type:
Article
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
Published in:
Clinical Genetics, 2015, v. 87, n. 2, p. 148, doi. 10.1111/cge.12348
By:
- Negri, G.;
- Milani, D.;
- Colapietro, P.;
- Forzano, F.;
- Della Monica, M.;
- Rusconi, D.;
- Consonni, L.;
- Caffi, L. G.;
- Finelli, P.;
- Scarano, G.;
- Magnani, C.;
- Selicorni, A.;
- Spena, S.;
- Larizza, L.;
- Gervasini, C.
Publication type:
Article