Genetic heterogeneity in corpus callosum agenesis.
agenesis
chromosomal anomalies
corpus callosum
heterogeneity
monogenic
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
31
05
2022
accepted:
05
09
2022
entrez:
17
10
2022
pubmed:
18
10
2022
medline:
18
10
2022
Statut:
epublish
Résumé
The corpus callosum is the largest white matter structure connecting the two cerebral hemispheres. Agenesis of the corpus callosum (ACC), complete or partial, is one of the most common cerebral malformations in humans with a reported incidence ranging between 1.8 per 10,000 livebirths to 230-600 per 10,000 in children and its presence is associated with neurodevelopmental disability. ACC may occur as an isolated anomaly or as a component of a complex disorder, caused by genetic changes, teratogenic exposures or vascular factors. Genetic causes are complex and include complete or partial chromosomal anomalies, autosomal dominant, autosomal recessive or X-linked monogenic disorders, which can be either
Identifiants
pubmed: 36246626
doi: 10.3389/fgene.2022.958570
pii: 958570
pmc: PMC9562966
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
958570Informations de copyright
Copyright © 2022 Pânzaru, Popa, Lupu, Gavrilovici, Lupu and Gorduza.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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