Cite

    Burke, E. A., Reichard, K. E., Wolfe, L. A., Brooks, B. P., DiGiovanna, J. J., Hadley, D. W., Lehky, T. J., Gropman, A. L., Tifft, C. J., Gahl, W. A., Toro, C., & Adams, D. (2020). a novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. American journal of medical genetics, 182(5), 1278–1283. http://access.bl.uk/ark:/81055/vdc_100102674719.0x00002d