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

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. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Neuropediatrics - August 7, 2023 Category: Neurology Authors: Formicola, Daniela Podda, Irina Pantaleo, Marilena Andreucci, Elena Lopergolo, Diego Giglio, Sabrina Santorelli, Filippo Maria Chilosi, Anna Tags: Short Communications Source Type: research