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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Eur J Hum Genet. 2012 Apr;20(4):381-8. doi: 10.1038/ejhg.2011.220. Epub 2011 Nov 30.
Eur J Hum Genet. 2012.
PMID: 22126750
Free PMC article.
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