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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 dysmorfisms
Journal of Medical Genetics, 09/25/09
Beunders G et al. – The features are remarkably similar, but seem more severe, compared to features seen in duplication patients. Therefore, our findings support the idea that a amplification of the WBS region is a disease causing event, although the penetrance might be incomplete.
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