A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: phenotypic and genotypic expansion
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The Cut Like Homeobox 2 (CUX2) gene encodes a transcription factor critical for neuronal development. Monoallelic pathogenic CUX2 variants are associated with developmental and epileptic encephalopathy 67 (DEE67), an autosomal dominant disorder characterized b... ...
