Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot-Reference-Cited by-同舟云学术

Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot

Published:2014-09-26 Issue:12 Volume:164 Page:3100-3107
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Baban Anwar¹,Postma Alex Vincent²,Marini Monica³,Trocchio Gianluca⁴,Santilli Antonella¹,Pelegrini Monica¹,Sirleto Pietro⁵,Lerone Margherita³,Albanese Sonia Bernadette¹,Barnett Phil²,Boogerd Cornelis Job²,Dallapiccola Bruno⁵,Digilio Maria Cristina⁵,Ravazzolo Roberto³⁶,Pongiglione Giacomo¹

Affiliation:

1. Department of Pediatric Cardiology and Cardiosurgery; Bambino Gesù Children Hospital; IRCCS; Rome Italy

2. Department of Anatomy, Embryology and Physiology; Academic Medical Center; Amsterdam The Netherlands

3. Laboratory of Molecular Genetics; Gaslini Children Hospital; Genoa Italy

4. Cardiovascular and Cardiosurgical Department; Gaslini Children Hospital; Genoa Italy

5. Unit of Medical Genetics and Cytogenetics; Bambino Gesù Children Hospital; IRCCS; Rome Italy

6. Department of Pediatrics and Center of Excellence for Biomedical Research (CEBR); University of Genoa; Genoa Italy

Funder

Health-e-Child Integrated Project

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference45 articles.

1. Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation;Baban;Am J Med Genet Part A,2014

2. Tetralogy of Fallot;Bailliard;Orphanet J Rare Dis,2009

3. Molecular Genetics of Holt–Oram Syndrome

4. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome);Basson;N Engl J Med,1994

5. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations;Basson;Proc Natl Acad Sci USA,1999

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