A triplication of the Williams–Beuren syndrome region in a patient with mental retardation, a severe...
A triplication of the Williams–Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms
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London: BMJ Publishing Group Ltd
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Language
English
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London: BMJ Publishing Group Ltd
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BackgroundIntrachromosomal triplications are rare chromosomal rearrangements. In most triplication cases the phenotype is similar to, but more severe than observed in patients with a duplication of the same region. The Williams-Beuren syndrome (WBS) region on 7q11.23, is prone to chromosomal rearrangements. A common deletion causes the well-charact...
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A triplication of the Williams–Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms
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TN_cdi_proquest_journals_1781194945
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1781194945
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg.2009.070490
