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Autor:
Alicia Kerr, Veeral Shah, Leslie E. W. LaConte, Paras A. Patel, Chen Liang, Konark Mukherjee, Ching-Kang Chen, Michael A. Fox
Publikováno v:
Investigative Ophthalmology & Visual Science
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 gan