Article
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease.
Human mutation - 1 Feb 2007
Griseri Paola, Lantieri Francesca, Puppo Francesca, Bachetti Tiziana, Di Duca Marco, Ravazzolo Roberto, Ceccherini Isabella
Abstract excerpt
Complex diseases are common genetic disorders showing familial aggregation but no typical Mendelian inheritance. Hirschsprung disease (HSCR), a developmental disorder characterized by the absence of enteric neurons in distal segments of the gut, shows a complex pattern of inheritance, with the RET protooncogene acting as a major gene and additional susceptibility loci playing minor roles. In the last years, we...
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