Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

@article{Salomon1996GermlineMO,
  title={Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease},
  author={R{\'e}mi Salomon and Tania Atti{\'e} and Anna Pelet and Christelle Bonod Bidaud and Charis Eng and Jeanne Amiel and S. Sarnacki and Olivier Goulet and Claude C Ricour and Claire Nihoul-F{\'e}k{\'e}t{\'e} and Arnold Munnich and Stanislas Lyonnet},
  journal={Nature Genetics},
  year={1996},
  volume={14},
  pages={345-347}
}
Hirschsprung disease (HSCR, aganglionic megacolon) is a common congenital malformation leading to bowel obstruction, with an incidence of 1/5,000 live births. It is characterized by the absence of intrinsic ganglion cells in the myenteric and submucosal plexuses along variable lengths of the gastrointestinal tract1. As enteric neurons are derived from the vagal neural crest, HSCR is regarded as a neurocristopathy2. On the basis of a skewed sex-ratio ( M/F = 4/1) and a risk to relatives much… CONTINUE READING

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