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Article

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)

4 Nov 2003

Abstract excerpt

The activation of the RET signaling pathway during embryogenesis is a crucial prerequisite for a directional migration of enteric nervous system progenitor cells. Loss-of-function germline mutations of the RET proto-oncogene are reported in familial and sporadic cases of Hirschsprung disease (HSCR) with a variable frequency. Furthermore, variants of several RET polymorphisms are over- or under-represented in HSCR...

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PMID: 14600022
DOI: 10.1093/hmg/ddg354

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Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)PMID 14600022Read ↗

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