Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene-Reference-Cited by-同舟云学术

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene

Published:2014-02-17 Issue:2 Volume:87 Page:148-154
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Negri G.¹,Milani D.²,Colapietro P.¹,Forzano F.³,Della Monica M.⁴,Rusconi D.¹,Consonni L.⁵,Caffi L. G.⁶,Finelli P.⁷⁸,Scarano G.⁴,Magnani C.⁸,Selicorni A.⁹,Spena S.¹,Larizza L.¹⁷,Gervasini C.¹

Affiliation:

1. Medical Genetics, Department of Health Sciences; Università degli Studi di Milano; Milano Italy

2. Pediatric Highly Intensive Care Unit; Fondazione IRCCS Ca' Granda; Milano Italy

3. Medical Genetics; Ospedali Galliera; Genova Italy

4. Medical Genetics Department; Gaetano Rummo Hospital; Benevento Italy

5. Infantile Neuropsychiatry Medical School; Università degli Studi di Milano; Milano Italy

6. Infantile Neuropsychiatry; A.O. Papa Giovanni XXIII; Bergamo Italy

7. Laboratory of Medical Cytogenetics and Molecular Genetics; IRCCS Istituto Auxologico Italiano; Milano Italy

8. Department of Medical Biotechnology and Translational Medicine; Università degli Studi di Milano; Milano Italy

9. Neonatology and Neonatal Intensive Care Unit, Maternal and Child Department; Parma University; Parma Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference20 articles.

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2. Rubinstein-Taybi syndrome;Hennekam;Eur J Hum Genet,2006

3. Tumors in Rubinstein-Taybi syndrome;Miller;Am J Med Genet,1995

4. Rubinstein-Taybi syndrome: clinical and molecular overview;Roelfsema;Expert Rev Mol Med,2007

5. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP;Petrij;Nature,1995

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