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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7703690/
https://www.ncbi.nlm.nih.gov/pubmed/33263113
http://dx.doi.org/10.1016/j.xhgg.2020.100008

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