Systematic analysis of copy number variation associated with congenital diaphragmatic hernia [Genetics]

Congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and hypoplasia of the lungs, is one of the most common and severe birth defects, and is associated with high morbidity and mortality rates. There is growing evidence demonstrating that genetic factors contribute to CDH, although the pathogenesis remains largely...

Source: Proceedings of the National Academy of Sciences - May 15, 2018 Category: Science Authors: Qihui Zhu, Frances A. High, Chengsheng Zhang, Eliza Cerveira, Meaghan K. Russell, Mauro Longoni, Maliackal P. Joy, Mallory Ryan, Adam Mil-homens, Lauren Bellfy, Caroline M. Coletti, Pooja Bhayani, Regis Hila, Jay M. Wilson, Patricia K. Donahoe, Charles Le Tags: Biological Sciences Source Type: research