Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic h...
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia
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London: BMJ Publishing Group Ltd
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English
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London: BMJ Publishing Group Ltd
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BackgroundCongenital diaphragmatic hernia (CDH) can occur in isolation or in association with other abnormalities. We hypothesised that some cases of non-isolated CDH are caused by novel genomic disorders.Methods and resultsIn a cohort of >12 000 patients referred for array comparative genomic hybridisation testing, we identified three individuals—...
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Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3225959
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3225959
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg.2009.075903
