University of Cagliari
embargoed_20240807
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech
Giglio, SabrinaMember of the Collaboration Group
;
2023-01-01
Abstract
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 mutation in the CSMD1 gene.
Files in This Item:
| File | Size | Format | |
|---|---|---|---|
| Evidence for - post print text.pdf embargo until 07/08/2024
Type: versione post-print
Size 1.05 MB
Format Adobe PDF
|
1.05 MB | Adobe PDF | & nbsp; View / Open Request a copy |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.