Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants

• Main Authors: Joakim Klar (Author), Helene Engstrand-Lilja (Author), Khurram Maqbool (Author), Jonas Mattisson (Author), Lars Feuk (Author), Niklas Dahl (Author)
• Format: Book
• Published: BMC, 2020-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 and the oesophagus, i.e. a tracheoesophageal fistula (TEF). The condition...