Characterization of a novel transcript o
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Willy M. Nillesen; Helger G. Yntema; Marco Moscarda; Nienke E. Verbeek; Louise C
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Article
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2011
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John Wiley and Sons
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English
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The core phenotype of Kleefstra syndrome (KS) is characterized by intellectual disability, childhood hypotonia, and a characteristic facial appearance. This can be caused by either submicroscopic 9q34 deletions or loss of function mutations of the EHMT1 gene. Remarkably, in three patients with a cli