Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.
Neuropediatrics
; 54(6): 407-411, 2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-37549685
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Apraxias
/
Fala
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Neuropediatrics
Ano de publicação:
2023
Tipo de documento:
Article