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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Autors principals: Veenma, Danielle, Beurskens, Niels, Douben, Hannie, Eussen, Bert, Noomen, Petra, Govaerts, Lutgarde, Grijseels, Els, Lequin, Maarten, de Krijger, Ronald, Tibboel, Dick, de Klein, Annelies, Van Opstal, Dian
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2010
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3006223/
https://ncbi.nlm.nih.gov/pubmed/21203572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0015348
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