Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient.

In this paper we present the detailed clinical and cytogenetic analysis of a prenatally detected complex Congenital Diaphragmatic Hernia (CDH) patient with a mosaic unbalanced translocation (5;12). High-resolution whole genome SNP array confirmed a low-level mosaicism (20%) in uncultured cells, unde...

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出版年:	PLoS ONE
主要な著者:	Danielle Veenma, Niels Beurskens, Hannie Douben, Bert Eussen, Petra Noomen, Lutgarde Govaerts, Els Grijseels, Maarten Lequin, Ronald de Krijger, Dick Tibboel, Annelies de Klein, Dian Van Opstal
フォーマット:	論文
言語:	英語
出版事項:	Public Library of Science (PLoS) 2010-01-01
オンライン･アクセス:	http://europepmc.org/articles/PMC3006223?pdf=render