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: Tags: Research article Source Type: research