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Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia
PURPOSE: Heterozygous mutations in the essential X-linked gene CASK associate with optic nerve hypoplasia (ONH) and other retinal disorders in girls. CASK(+/−) heterozygous knockout mice with mosaic CASK expression exhibit ONH with a loss of retinal ganglion cells (RGCs) but no changes in retinal mo...
Autores principales: | Kerr, Alicia, Patel, Paras A., LaConte, Leslie E. W., Liang, Chen, Chen, Ching-Kang, Shah, Veeral, Fox, Michael A., Mukherjee, Konark |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Association for Research in Vision and Ophthalmology
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6701874/ https://www.ncbi.nlm.nih.gov/pubmed/31425583 http://dx.doi.org/10.1167/iovs.19-27197 |
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