A De Novo Novel Mutation of the EDNRB Gene in a Taiwanese Boy with Hirschsprung Disease
Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2006-01-01
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| Series: | Journal of the Formosan Medical Association |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664609601285 |