CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review
ABSTRACT: Abstract C-terminal binding proteins (CtBP1/2) are transcriptional coregulators that play a signifcant role during vertebrate neu rodevelopment. This systematic review aims to identify case reports with genetic variants in CTBP1 and CTBP2 associated with brain development syndromes. We scr...
- Autores:
-
Acosta Baena, Natalia
Tejada Moreno, Johanna Alexandra
Arcos Burgos, Oscar Mauricio
Villegas Lanau, Carlos Andrés
- Tipo de recurso:
- Review article
- Fecha de publicación:
- 2022
- Institución:
- Universidad de Antioquia
- Repositorio:
- Repositorio UdeA
- Idioma:
- eng
- OAI Identifier:
- oai:bibliotecadigital.udea.edu.co:10495/31904
- Acceso en línea:
- https://hdl.handle.net/10495/31904
- Palabra clave:
- Transcriptional corepressors
CTBP
Neurodevelopment
HADDTS syndrome
De novo mutations
R342W
Recurrent mutation
PLDLS motif
- Rights
- openAccess
- License
- https://creativecommons.org/licenses/by/4.0/