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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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Main Authors: | , , , , , , , , , , |
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Formáid: | Artigo |
Teanga: | Inglês |
Foilsithe: |
2010
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Ábhair: | |
Rochtain Ar Líne: | 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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