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Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318369/ https://www.ncbi.nlm.nih.gov/pubmed/32586322 http://dx.doi.org/10.1186/s12920-020-00737-6 |