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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...
Autores principales: | Huang, Hao, Jin, Jieyuan, Wu, Liping, Wu, Huifen, Pi, Huichun, Dong, Yi, Xiang, Rong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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 |
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