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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
We report on 4 boys (3 in one family) who have a remarkably constant syndrome of childhood-onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external ophthalmoplegia and varying degrees of deafness. The pedigrees are consistent with X-linked inheritance. The syndrome is compared and contrasted with others comprising basal ganglion dysfunction in childhood. It is concluded that clinically and genetically the condition is unique.[1]
