Case report: Expanding the phenotype of
FOXP1
angiomas
autism
choanal atresia
epilepsy
movement disorder
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2023
2023
Historique:
received:
17
04
2023
accepted:
23
06
2023
medline:
31
7
2023
pubmed:
31
7
2023
entrez:
31
7
2023
Statut:
epublish
Résumé
We aimed to report on previously unappreciated clinical features associated with We performed whole-exome sequencing (WES) to molecularly characterize an individual presenting with ID, epilepsy, autism spectrum disorder, behavioral problems, and facial dysmorphisms as major features. WES allowed us to identify a previously unreported We suggest that
Identifiants
pubmed: 37521304
doi: 10.3389/fneur.2023.1207176
pmc: PMC10382204
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1207176Informations de copyright
Copyright © 2023 Cesaroni, Pollazzon, Mancini, Rizzi, Cappelletti, Pizzi, Frattini, Spagnoli, Caraffi, Zuntini, Trimarchi, Niceta, Radio, Tartaglia, Garavelli and Fusco.
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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