Article
SOX10 structure-function analysis in the chicken neural tube reveals important insights into its role in human neurocristopathies.
Human molecular genetics - 15 Jun 2010
Cossais François, Wahlbuhl Mandy, Kriesch Jana, Wegner Michael
Abstract excerpt
The HMG-domain containing transcription factor Sox10 is essential for neural crest (NC) development and for oligodendrocyte differentiation. Heterozygous SOX10 mutations in humans lead to corresponding defects in several NC-derived lineages and to leukodystrophies. Disease phenotypes range from Waardenburg syndrome and Waardenburg-Hirschsprung disease to Peripheral demyelinating neuropathy, Central...
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