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• W2077261567 abstract "We present four children, three of them boys, affected with an identical clinical pattern consisting of early-onset ataxia, delayed dentition, hypomyelination and cerebellar atrophy. Dental radiographs showed variable absence of succedaneous teeth. Proton MR spectroscopy in one child showed elevated white matter myo-inositol. As the clinical and radiological picture in these patients is identical to that of four cases described earlier, we suggest that this disorder with ataxia, delayed dentition and hypomyelination (ADDH) represents a new entity. With the characteristic tooth abnormalities it should be straightforward to identify new patients in order to facilitate the search for the underlying genetic defect." @default.
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• W2077261567 date "2007-04-01" @default.
• W2077261567 modified "2023-10-03" @default.
• W2077261567 title "Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy" @default.
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• W2077261567 doi "https://doi.org/10.1055/s-2007-985137" @default.
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