Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
Oesophageal atresia (OA) is a life-threatening developmental defect characterized by a lost continuity between the upper and lower oesophagus. The most common form is a distal connection between the trachea an...
Source: BMC Medical Genomics - Category: Genetics & Stem Cells Authors: Joakim Klar, Helene Engstrand-Lilja, Khurram Maqbool, Jonas Mattisson, Lars Feuk and Niklas Dahl Tags: Research article Source Type: research