Mutations of the RET proto-oncogene in Hirschsprung's disease

@article{Edery1994MutationsOT,
  title={Mutations of the RET proto-oncogene in Hirschsprung's disease},
  author={Patrick Edery and Stanislas Lyonnet and Lois M Mulligan and Anna Pelet and Eleanore Dow and Laurent Abel and Susan Holder and Claire Nihoul-F{\'e}k{\'e}t{\'e} and Bruce A. J. Ponder and Arnold Munnich},
  journal={Nature},
  year={1994},
  volume={367},
  pages={378-380}
}
HIRSCHSPRUNG'S disease (HSCR)1 is a common condition (1 in 5,000 live births) resulting in intestinal obstruction in neonates2 and megacolon in infants and adults3. This disease has been ascribed to the absence of autonomic ganglion cells, which are derived from the neural crest, in the terminal hindgut4. Segregation analyses have suggested incompletely penetrant dominant inheritance in familial HSCR5. Recently, a gene for HSCR has been mapped to chromosome 10q11.2 (refs 6, 7). No recombination… CONTINUE READING

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