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OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Archive ouverte | Chao de La Barca, Juan Manuel | CCSD

International audience. Mutations in the Optic Atrophy 1 gene (OPA1) were first identified in 2000 as the main cause of Dominant Optic Atrophy, a disease specifically affecting the retinal ganglion cells and the opt...

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Archive ouverte | Rocatcher, Aude | CCSD

International audience. Abstract Hereditary optic neuropathies are caused by the degeneration of retinal ganglion cells whose axons form the optic nerves, with a consistent genetic heterogeneity. As part of our diag...

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Archive ouverte | Chao de la Barca, Juan Manuel | CCSD

International audience

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