The S0X10 (sex determining region Y-box) gene is expressed in neuronal crest derivates that contribute to the formation of the peripheral nervous system during embryogenesis [76, 77]. The involvement of S0X10 in the development of enteric neurons was demonstrated in the Dom (dominant megacolon) mouse model of Hirschsprung's disease which exhibits distal intestinal aganglionosis [76]. Mutations in S0X10 have been identified as a cause of the dominant megacolon mouse and Waardenburg-Shah syndrome in humans, both of which include defects in the ENS and pigmentation abnormalities [78, 79].

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