Article
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.
American journal of human genetics - 1 Oct 2002
Griseri Paola, Pesce Barbara, Patrone Giovanna, Osinga Jan, Puppo Francesca, Sancandi Monica, Hofstra Robert, Romeo Giovanni, Ravazzolo Roberto, Devoto Marcella, Ceccherini Isabella
Abstract excerpt
Hirschsprung disease (HSCR) is a common genetic disorder characterized by intestinal obstruction secondary to enteric aganglionosis. HSCR demonstrates a complex pattern of inheritance, with the RET proto-oncogene acting as a major gene and with several additional susceptibility loci related to the Ret-signaling pathway or to other developmental programs of neural crest cells. To test how the HSCR phenotype may be...
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