Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.
BBSOAS
NR2F1
clinical symptoms
genotype-phenotype correlation
haploinsufficiency
mouse models
neurodevelopmental disorder
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
08 04 2022
08 04 2022
Historique:
received:
03
02
2022
revised:
17
03
2022
accepted:
29
03
2022
entrez:
23
4
2022
pubmed:
24
4
2022
medline:
27
4
2022
Statut:
epublish
Résumé
The formation and maturation of the human brain is regulated by highly coordinated developmental events, such as neural cell proliferation, migration and differentiation. Any impairment of these interconnected multi-factorial processes can affect brain structure and function and lead to distinctive neurodevelopmental disorders. Here, we review the pathophysiology of the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS; OMIM 615722; ORPHA 401777), a recently described monogenic neurodevelopmental syndrome caused by the haploinsufficiency of
Identifiants
pubmed: 35455940
pii: cells11081260
doi: 10.3390/cells11081260
pmc: PMC9024734
pii:
doi:
Substances chimiques
COUP Transcription Factor I
0
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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