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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Veröffentlicht in:HGG Adv
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2020
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Article
Online Zugang: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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