Ontology highlight
ABSTRACT:
SUBMITTER: Posch MG
PROVIDER: S-EPMC2981023 | biostudies-literature | 2010 Apr
REPOSITORIES: biostudies-literature
Posch Maximilian G MG Gramlich Michael M Sunde Margaret M Schmitt Katharina R KR Lee Stella H Y SH Richter Silke S Kersten Andrea A Perrot Andreas A Panek Anna N AN Al Khatib Iman H IH Nemer Georges G Mégarbané André A Dietz Rainer R Stiller Brigitte B Berger Felix F Harvey Richard P RP Ozcelik Cemil C
Journal of medical genetics 20090916 4
<h4>Background</h4>Ostium secundum atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD), and mutations in cardiac transcription factors, including TBX20, were identified as an underlying cause for ASDII. However, very little is known about disease penetrance in families and functional consequences of inherited TBX20 mutations.<h4>Methods</h4>The coding region of TBX20 was directly sequenced in 170 ASDII patients. Functional consequences of one novel m ...[more]