Article

Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting<i>FOXP2</i>

2022-06-06

Abstract excerpt

<h4>Background</h4> Heterozygous 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. <h4>Methods</h4> Here 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). He...

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Literature Corpus work: fad1a0c8-2d55-5156-bf76-52414e7a1b60
DOI: 10.1101/2022.06.01.22275851

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