De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

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...

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Bibliographic Details
Main Authors: Gabriel C. Dworschak, Hartmut Engels, Jessica Becker, Lukas Soellner, Thomas Eggermann, Florian Kipfmueller, Andreas Müller, Heiko Reutter, Martina Kreiß
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-04-01
Series:Frontiers in Pediatrics
Subjects:
congenital diaphragmatic hernia
CDH
Beckwith-Wiedemann syndrome
BWS
11p15 duplication
partial trisomy
Online Access:http://journal.frontiersin.org/article/10.3389/fped.2018.00116/full

Internet

http://journal.frontiersin.org/article/10.3389/fped.2018.00116/full

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