Article
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.
BMC medical genomics - 26 Jun 2020
Klar Joakim, Engstrand-Lilja Helene, Maqbool Khurram, Mattisson Jonas, Feuk Lars, Dahl Niklas
Abstract excerpt
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 may be part of a syndrome or occurs as an isolated feature. The recurrence risk in affected families is increased compared...
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