Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.

@article{Borrego1999SpecificPI,
  title={Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.},
  author={Salud Borrego and Mar{\'i}a Eugenia S{\'a}ez and Agust{\'i}n Ruiz and O Gimm and Manuel Lopez-Alonso and Guillermo Anti{\~n}olo and Charis Eng},
  journal={Journal of medical genetics},
  year={1999},
  volume={36 10},
  pages={771-4}
}
Hirschsprung disease (HSCR) is a common genetic disorder presenting with functional intestinal obstruction secondary to enteric aganglionosis. HSCR can be familial or sporadic. Although five putative susceptibility genes have been identified, only germline mutations in the RET proto-oncogene account for a significant minority (up to 50%) of familial HSCR; 3% of sporadic HSCR in a population based series carry RET mutations. From 1998 to February 1999, we prospectively ascertained 64 cases of… CONTINUE READING
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Segregation of a chromosome 9 q susceptibility gene in RET - linked Hirschsprung disease

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