Article

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

2020-04-05

Abstract excerpt

<h4>ABSTRACT</h4> The diaphragm is a mammalian muscle critical for respiration and separation of the thoracic and abdominal cavities. Defects in the development of the diaphragm are the cause of congenital diaphragmatic hernia (CDH), a common birth defect. In CDH, weaknesses in the developing diaphragm allow abdominal contents to herniate into the thoracic cavity and impair lung development, leading to a high neo...

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Literature Corpus work: f5baff65-b477-5d46-bc93-faa53724d08f
DOI: 10.1101/2020.04.03.024398

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