title: Advances in molecular genetics for pulmonary atresia.
abstract: Genetic and environmental factors may be similar in certain CHD. It has been widely accepted that it is the cumulative effect of these risk factors that results in disease. Pulmonary atresia is a rare type of complex cyanotic CHD with a poor prognosis. Understanding the molecular mechanism of pulmonary atresia is essential for future diagnosis, prevention, and therapeutic approaches. In this article, we reviewed several related copy number variants and related genetic mutations, which were identified in patients with pulmonary atresia, including pulmonary atresia with ventricular septal defect and pulmonary atresia with intact ventricular septum.
authors.affiliation: Department of Cardiothoracic Surgery,Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai,China.
authors.forename: Manchen
authors.initials: M
authors.lastname: Gao
authors.affiliation: Department of Cardiothoracic Surgery,Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai,China.
authors.forename: Xiaomin
authors.initials: X
authors.lastname: He
authors.affiliation: Department of Cardiothoracic Surgery,Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai,China.
authors.forename: Jinghao
authors.initials: J
authors.lastname: Zheng
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D008967:Molecular Biology / Q000379:methods*; D018633:Pulmonary Atresia / Q000235:genetics*
keywords: CHD; copy number variants; gene mutations; pulmonary atresia