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

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

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...

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Bibliographic Details
Main Authors: Joakim Klar, Helene Engstrand-Lilja, Khurram Maqbool, Jonas Mattisson, Lars Feuk, Niklas Dahl
Format: Article
Language:English
Published: BMC 2020-06-01
Series:BMC Medical Genomics
Subjects:
Oesophagus atresia
Whole genome sequencing
Online Access:http://link.springer.com/article/10.1186/s12920-020-00737-6

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