Issue Information

Novel mutations were found in Vietnamese patients with Ellis‐van Creveld syndrome, a ciliopathy presenting with congenital heart defects, such as atrioventricular septal defect and common atrium, and hand anomalies, such as postaxial polydactyly, nail dystrophy (top), and short, broad metacarpal and phalangeal bones (bottom). Further details can be seen in the article by Nguyen et al. in this issue.
Source: Congenital Anomalies - Category: Genetics & Stem Cells Tags: Issue Information Source Type: research