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Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.
Eur J Med Genet. 2014 Sep;57(9):513-9. doi: 10.1016/j.ejmg.2014.05.008. Epub 2014 Jun 7.
Eur J Med Genet. 2014.
PMID: 24911659
Health and disease in adults with Down syndrome.
Malt EA, Dahl RC, Haugsand TM, Ulvestad IH, Emilsen NM, Hansen B, Cardenas YE, Skøld RO, Thorsen AT, Davidsen EM.
Malt EA, et al. Among authors: haugsand tm.
Tidsskr Nor Laegeforen. 2013 Feb 5;133(3):290-4. doi: 10.4045/tidsskr.12.0390.
Tidsskr Nor Laegeforen. 2013.
PMID: 23381164
Free article.
Review.
English, Norwegian.
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