Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with phenotypic features of Williams syndrome.
Bzdúch
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Lukácová
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D001017:Aortic Coarctation / Q000235:genetics*; D001020:Aortic Stenosis, Subvalvular / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D013577:Syndrome