A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects

BACKGROUND: Nuclear factor I B (NFIB) plays an important role in regulating the transcription of multiple biological processes. Mutations in NFIB cause intellectual disability and macrocephaly. However, studies on abnormal brain and lung development caused by NFIB mutations are lacking. METHODS: In...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Hao, Jin, Jieyuan, Wu, Liping, Wu, Huifen, Pi, Huichun, Dong, Yi, Xiang, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9005976/
https://www.ncbi.nlm.nih.gov/pubmed/35433561
http://dx.doi.org/10.3389/fped.2022.865181

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9005976/
https://www.ncbi.nlm.nih.gov/pubmed/35433561
http://dx.doi.org/10.3389/fped.2022.865181

Ejemplares similares