Expanding the mutational spectrum of FHONDA syndrome.
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DOI: 10.1080/13816810.2023.2175873
Abstract: 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 in the… read more here.
Keywords: foveal hypoplasia; mutational spectrum; fhonda; expanding mutational ... See more keywords