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...

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Detalles Bibliográficos
Autores principales: Klar, Joakim, Engstrand-Lilja, Helene, Maqbool, Khurram, Mattisson, Jonas, Feuk, Lars, Dahl, Niklas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
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

Internet

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

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