Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.
Journal
Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
medline:
15
11
2023
pubmed:
8
8
2023
entrez:
7
8
2023
Statut:
ppublish
Résumé
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
Identifiants
pubmed: 37549685
doi: 10.1055/s-0043-1771033
doi:
Substances chimiques
CSMD1 protein, human
0
Membrane Proteins
0
Tumor Suppressor Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
407-411Subventions
Organisme : Italian Ministry of Health
ID : RF2016-02361560
Organisme : Italian Ministry of Health
ID : RC 5 × 1000
Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
None declared.