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Tags: Lupski J R

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Congenital Hypomyelinating Neuropathy, Central Dysmyelination, And Waardenburg-hirschsprung Disease: Phenotypes Linked By Sox10 Mutation

A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has been recognized recently in association with SOX10 mutations. We report an infant boy with lethal congenital…

Tags: 2002, Agamanolis D P, Annals of Neurology, Boerkoel C F, Crowe C, Department of Family & Community Medicine, expression, gene, Inoue K, Journal Article or Conference Abstract Publication, Lupski J R, NEOMED College of Medicine, Neurosciences & Neurology, Sawady J, Shilo K, transcription factor sox10

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