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16Q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome

Aiko Iwata-Otsubo,Alyssa L Rippert,Jorune Balciuniene,Sarah K Fiordaliso, Robert Chen, Preetha Markose,Cara M Skraban,Christopher Gray,Elaine H Zackai,Holly A Dubbs,Matthew A Deardorff,Laura K Conlin,Kosuke Izumi

Genes（2025）

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关键词
developmental delay,KBG syndrome,transcriptome,molecular diagnosis,gene expression
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