Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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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 recur...
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Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
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TN_cdi_doaj_primary_oai_doaj_org_article_1f33fd56f6cd48e2ad8bd96f55b9fafb
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1f33fd56f6cd48e2ad8bd96f55b9fafb
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ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-020-00737-6
