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De novo copy number variants are associated with congenital diaphragmatic hernia

✍ Scribed by Yu, L.; Wynn, J.; Ma, L.; Guha, S.; Mychaliska, G. B.; Crombleholme, T. M.; Azarow, K. S.; Lim, F. Y.; Chung, D. H.; Potoka, D.; Warner, B. W.; Bucher, B.; LeDuc, C. A.; Costa, K.; Stolar, C.; Aspelund, G.; Arkovitz, M. S.; Chung, W. K.

Book ID: 126816732
Publisher: BMJ Publishing Group
Year: 2012
Tongue: English
Weight: 295 KB
Volume: 49
Category: Article
ISSN: 0022-2593
DOI: 10.1136/jmedgenet-2012-101135

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## Abstract Congenital diaphragmatic hernia (CDH) is a relatively common birth defect with a high mortality. Although little is known about its etiology, there is increasing evidence for a strong genetic contribution. Both numerical and structural chromosomal abnormalities have been described in pa