Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits, and possibly Diamond-Blackfan anemia

BACKGROUND: Congenital diaphragmatic hernia (CDH) can occur in isolation or in association with other abnormalities. We hypothesized that some cases of non-isolated CDH are caused by novel genomic disorders. METHODS AND RESULTS: In a cohort of >12,000 patients referred for array comparative genom...

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Autors principals: Wat, Margaret J., Enciso, Victoria B., Wiszniewski, Wojciech, Resnick, Trevor, Bader, Patricia, Roeder, Elizabeth R., Freedenberg, Debra, Brown, Chester, Stankiewicz, Pawel, Cheung, Sau-Wai, Scott, Daryl A.
Format: Artigo
Idioma:Inglês
Publicat: 2010
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3225959/
https://ncbi.nlm.nih.gov/pubmed/20921022
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.075903
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