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Paderova, J. et al. Clinical Genetics.

Paderova, J. et al. Clinical Genetics. 2016 Feb

J. Paderova and colleagues describe a diagnosis strategy for Kabuki syndrome (KS) that includes KMT2D sequencing followed by array CGH, and observed disease features evaluated according to the gMLL2-Kabuki score defined by Makrythanasis et al.



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