Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
Abstract Background Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language. However, heterozygous variants can also be found in unaffected individuals....
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2021-10-01T00:00:00Z.
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