Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novoTBX5mutation-Reference-Cited by-同舟云学术

Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novoTBX5mutation

Published:2014-03-24 Issue:6 Volume:164 Page:1419-1424
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Baban Anwar¹,Pitto Letizia²,Pulignani Silvia²,Cresci Monica²,Mariani Laura²,Gambacciani Carolina²,Digilio Maria Cristina¹,Pongiglione Giacomo¹,Albanese Sonia¹

Affiliation:

1. Department of Pediatric Cardiology and Cardiac Surgery; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

2. CNR Institute of Clinical Physiology; Pisa Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference37 articles.

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2. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome;Basson;Nat Genet,1997

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

4. A complex deformity of appendicular skeleton and shoulder with congenital heart disease in three generations of a Jordanian family;Boehme;Clin Genet,1989

5. Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome;Boogerd;Cardiovasc Res,2010

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