Regulatory mutations missed in standard genetic screening lead to congenital diseases

(The Mount Sinai Hospital / Mount Sinai School of Medicine) Researchers have identified a type of genetic aberration to be the cause of certain neurodevelopmental disorders and congenital diseases, such as autism and congenital heart disease, which are undetectable by conventional genetic testing.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news