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PMX2B, a new candidate gene for Hirschsprung's disease

12 Aug 2003

Abstract excerpt

Hirschsprung's (HSCR) disease is a congenital intestinal malformation of the enteric nervous system. It is a multigenic malformation and until now, eight genes have been involved in the etiology of this disease: genes encoding proteins of the RET signaling pathway (RET, GDNF and NTN), genes participating in the endothelin (EDN) type B receptor pathway (EDNRB, EDN3 and ECE-1), the SOX10 gene and the SIP1 gene that...

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PMID: 12919134
DOI: 10.1034/j.1399-0004.2003.00105.x

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