In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 .

Journal of medical genetics(2022)

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摘要
Although we identify an increased prevalence of conditions like anxiety, depression and sleep disturbance, we confirm that the consequences of dysfunction remain relatively specific to speech disorder, as compared with other recently identified monogenic conditions associated with CAS. Thus, our findings reinforce that provides a valuable entry point for examining the neurobiological bases of speech disorder.
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关键词
genetics,genotype,paediatrics,phenotype
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