Insights into genotype-phenotype correlations fromCREBBPpoint mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients-Reference-Cited by-同舟云学术

Insights into genotype-phenotype correlations fromCREBBPpoint mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

Published:2014-12-09 Issue:5 Volume:88 Page:431-440
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Spena S.¹,Milani D.²,Rusconi D.¹,Negri G.¹,Colapietro P.¹,Elcioglu N.³,Bedeschi F.⁴,Pilotta A.⁵,Spaccini L.⁶,Ficcadenti A.⁷,Magnani C.⁸,Scarano G.⁹,Selicorni A.¹⁰,Larizza L.¹¹¹,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, Ospedale Maggiore, Policlinico; Milano Italy

3. Department of Pediatrics; Marmara University School of Medicine; Istanbul Turkey

4. Clinical Genetics Unit, Fondazione IRCCS Ca' Granda; Ospedale Maggiore Policlinico; Milano Italy

5. Centro di Auxoendocrinologia, Department of Paediatrics; Spedali Civili; Brescia Italy

6. Department of Obstetrics and Gynecology; Children's Hospital V. Buzzi; Milano Italy

7. Rare diseases Regional Centre, Pediatric Institute of Maternal-Infantile Sciences Department; Polytechnic University of Marche, Salesi Hospital of United Hospitals of Ancona; Ancona Italy

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

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

10. Department of Pediatrics; Università Milano Bicocca, Fondazione MBBM, San Gerardo Hospital; Monza Italy

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

Funder

Assciazione RTS Una Vita Speciale

Assciazione Studio Malformazioni ONLUS

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference31 articles.