Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias

The diaphragm is critical for respiration and separation of the thoracic and abdominal cavities, and defects in diaphragm development are the cause of congenital diaphragmatic hernias (CDH), a common and often lethal birth defect. The genetic etiology of CDH is complex. Single-nucleotide variants (S...

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Bibliografische gegevens
Gepubliceerd in:HGG Adv
Hoofdauteurs: Bogenschutz, Eric L., Fox, Zac D., Farrell, Andrew, Wynn, Julia, Moore, Barry, Yu, Lan, Aspelund, Gudrun, Marth, Gabor, Yandell, Mark, Shen, Yufeng, Chung, Wendy K., Kardon, Gabrielle
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2020
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7703690/
https://ncbi.nlm.nih.gov/pubmed/33263113
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.xhgg.2020.100008
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