Article
A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.
Neurology - 22 Aug 2006
Neubauer B A, Stefanova I, Hübner C A, Neumaier-Probst E, Bohl J, Oppermann H C, Stö H, Hahn A, Stephani U, Kohlschütter A, Gal A
Abstract excerpt
BACKGROUND: The authors report a three-generation family with four male patients presenting with a novel type of X-chromosomal leukoencephalopathy associated with skeletal abnormalities. METHODS: The index patient and his brother reached their early motor milestones in due time and had normal lan...
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