A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Homozygosity for Waardenburg syndrome. Medicine is a constantly changing science and not all therapies are clearly established.
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