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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy.

We report the clinical and laboratory findings in 2 siblings with a syndrome of pigmentary retinopathy, blepharospasm, and dystonia. This entity most resembles Hallervorden-Spatz disease, but appears to be a distinct disorder without identifiable neuroimaging or biochemical abnormalities.[1]


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