Article
Novel CIC variants identified in individuals with neurodevelopmental phenotypes.
Human mutation - 1 Jul 2022
Sharma Saloni, Hourigan Brenna, Patel Zain, Rosenfeld Jill A, Chan Katie M, Wangler Michael F, Yi Joanna S, Lehman Anna, Horvath Gabriella, Cloos Paul A, Tan Qiumin
Abstract excerpt
Heterozygous pathogenic variants in CIC, which encodes a transcriptional repressor, have been identified in individuals with neurodevelopmental phenotypes. To date, 11 CIC variants have been associated with the CIC-related neurodevelopmental syndrome. Here, we describe three novel and one previously reported CIC variants in four individuals with neurodevelopmental delay. Notably, we report for the first time a de...
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