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Quoted phrase not found in phrase index: "Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome"
Page 1
The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.
Weiner C, Hecht I, Rotenstreich Y, Guttman S, Or L, Morad Y, Shapira G, Shomron N, Pras E. Weiner C, et al. Exp Eye Res. 2020 Apr;193:107958. doi: 10.1016/j.exer.2020.107958. Epub 2020 Feb 4. Exp Eye Res. 2020. PMID: 32032626
PURPOSE: A recently described subtype of foveal hypoplasia with congenital nystagmus and optic-nerve-decussation defects was found to be associated with mutations in the SLC38A8 gene. ...RESULTS: Eight affected individuals were ide …
PURPOSE: A recently described subtype of foveal hypoplasia with congenital nystagmus and optic-nerve-d …
Expanding the mutational spectrum of FHONDA syndrome.
Shoji MK, Khodeiry MM, Sengillo JD, Mendoza C. Shoji MK, et al. Ophthalmic Genet. 2023 Dec;44(6):602-605. doi: 10.1080/13816810.2023.2175873. Epub 2023 Feb 7. Ophthalmic Genet. 2023. PMID: 36748941
AIM: The aim of the study is to present a rare case of Foveal Hypoplasia, Optic Nerve Decussation defects, and Anterior segment dysgenesis (FHONDA) confirmed by genetic testing with two separate pathogenic mutations i …
AIM: The aim of the study is to present a rare case of Foveal Hypoplasia, Optic Nerve Decussation defe …