Article
Linkage analysis of candidate endothelin pathway genes in nonsyndromic familial orofacial cleft.
Annals of human genetics - 1 Jul 2000
Pezzetti F, Scapoli L, Martinelli M, Carinci F, Brunelli G, Carls F P, Palomba F, Gombos F, Carinci P, Tognon M
Abstract excerpt
There is good evidence from linkage analysis and mouse model knockouts that the endothelin-1 gene (EDN1) is a good candidate for non-syndromic orofacial cleft (OFC) disease. EDN1 maps to the chromosomal region of the OFC1 locus in 6p23. Therefore we have examined three other candidate genes in the endothelin pathway (ECE1, EDNRA and EDNRB, which map to chromosomes 1, 4 and 13 respectively) in a linkage study of 9...
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