De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

• Главные авторы: Gabriel C. Dworschak (Автор), Hartmut Engels (Автор), Jessica Becker (Автор), Lukas Soellner (Автор), Thomas Eggermann (Автор), Florian Kipfmueller (Автор), Andreas Müller (Автор), Heiko Reutter (Автор), Martina Kreiß (Автор)
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• Опубликовано: Frontiers Media S.A., 2018-04-01T00:00:00Z.
• Предметы: article
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Background: Congenital diaphragmatic hernia (CDH) is a rare defect of the diaphragm commonly associated with high morbidity and mortality due to lung hypoplasia and pulmonary hypertension. Although in 70% of patients the etiology of a CDH remains unknown, a multitude of causative chromosomal aberrat...