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Article

Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.

Neuropediatrics - 1 Dec 2023

Formicola Daniela, Podda Irina, Pantaleo Marilena, Andreucci Elena, Lopergolo Diego, Giglio Sabrina, Santorelli Filippo Maria, Chilosi Anna

Abstract excerpt

Childhood apraxia of speech (CAS) is a pediatric motor speech disorder. The genetic etiology of this complex neurological condition is not yet well understood, although some genes have been linked to it. We describe the case of a boy with a severe and persistent motor speech disorder, consistent with CAS, and a coexisting language impairment.Whole exome sequencing in our case revealed a de novo and splicing...

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PMID: 37549685
DOI: 10.1055/s-0043-1771033

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