A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

@article{Angrist1993AGF,
  title={A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10},
  author={Misha Angrist and Erick Kauffman and Susan A. Slaugenhaupt and Tara Cox Matise and Erik G Puffenberger and Sarah Shaw Washington and Anthony Lipson and Daniel Thomas Cass and Troy Reyna and Daniel E. Weeks and William K Sieber and Aravinda Chakravarti},
  journal={Nature Genetics},
  year={1993},
  volume={4},
  pages={351-356}
}
Hirschsprung disease (HSCR) is characterized by a congenital absence of enteric ganglia along a variable length of the intestine. Although long considered to be a multifactorial disease, we have identified linkage in a subset of five HSCR families to the pericentromeric region of chromosome 10, thereby proving monogenic inheritance in some families. A maximum two–point lod score of 3.37 (\[thetacirc] = 0.045) was observed between HSCR and D10S176, under an incompletely penetrant dominant model… CONTINUE READING

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