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Archive ouverte | Poncet, Anaïs | CCSD

International audience. Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genet...

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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...

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Archive ouverte | Douillard, Aymeric | CCSD

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