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Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
2022-06-06
genetic and genomic medicine
Title + abstract only
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BackgroundHeterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder; childhood apraxia of speech (CAS), yet few cases have been reported, limiting knowledge of the condition. MethodsHere we phenotyped 29 individuals from 18 families with pathogenic FOXP2-only variants (13 loss-of-function, 5 missense variants; 14 males; aged 2 years to 62 years). Health and development (cognitive, motor, social domains) was examined, including speech and language out...
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