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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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMC
2020-06-01
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| Series: | BMC Medical Genomics |
| Assuntos: | |
| Acceso en liña: | http://link.springer.com/article/10.1186/s12920-020-00737-6 |
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