Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been identified as an autosomal-dominant disorder characterized by a complex neurological phenotype, with high prevalence of intellectual disability and optic nerve atrophy/hypoplasia. The syndrome is caused by loss-of-function mutations in N...

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Published in:Hum Mol Genet
Main Authors: Chen, Chun-An, Wang, Wei, Pedersen, Steen E, Raman, Ayush, Seymour, Michelle L, Ruiz, Fernanda R, Xia, Anping, van der Heijden, Meike E, Wang, Li, Yin, Jiani, Lopez, Joanna, Rech, Megan E, Lewis, Richard A, Wu, Samuel M, Liu, Zhandong, Pereira, Fred A, Pautler, Robia G, Zoghbi, Huda Y, Schaaf, Christian P
Format: Artigo
Language:Inglês
Published: Oxford University Press 2020
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General Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7104670/
https://ncbi.nlm.nih.gov/pubmed/31600777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz233
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