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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

Autor: Hao Huang, Jieyuan Jin, Liping Wu, Huifen Wu, Huichun Pi, Yi Dong, Rong Xiang

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

BackgroundNuclear 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 ca

Externí odkaz: https://doaj.org/article/8072b354ce704d789a0d6218ace8a22b

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Autor: Hao, Huang, Jieyuan, Jin, Liping, Wu, Huifen, Wu, Huichun, Pi, Yi, Dong, Rong, Xiang

Publikováno v: Frontiers in pediatrics. 10

Nuclear factor I B (In the present study, we enrolled a fetus with brain malformation and lung lobulation defects from China. Whole-exome sequencing (WES) was performed to detect the candidate genes and Sanger sequencing was performed for mutational

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::97798b3fd98ac19b9138714428663d8f
https://pubmed.ncbi.nlm.nih.gov/35433561

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