Demant Stevenson

  • Demant Stevenson heeft een update geplaatst 2 weken, 4 dagen geleden

    Foveal hypoplasia is the major cause of visual loss. Here we report an isolated foveal hypoplasia patient without nystagmus. It is very rare, and its etiology is not completely understood. Using whole-exome sequencing and foveal hypoplasia-related gene filtering from a family with two generations, we identified a novel variant c.859T>C (p.S287P)…[Lees meer]

  • Demant Stevenson is geregistreerd lid geworden 2 weken, 5 dagen geleden

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