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Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease

BACKGROUND: Hirschsprung’s disease, or congenital aganglionosis, is a developmental disorder of the enteric nervous system and is the most common cause of intestinal obstruction in neonates and infants. The disease has more than 80% heritability, including significant associations with rare and comm...

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Détails bibliographiques
Publié dans:N Engl J Med
Auteurs principaux: Tilghman, Joseph M., Ling, Albee Y., Turner, Tychele N., Sosa, Maria X., Krumm, Niklas, Chatterjee, Sumantra, Kapoor, Ashish, Coe, Bradley P., Nguyen, Khanh-Dung H., Gupta, Namrata, Gabriel, Stacey, Eichler, Evan E., Berrios, Courtney, Chakravarti, Aravinda
Format: Artigo
Langue:Inglês
Publié: 2019
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6596298/
https://ncbi.nlm.nih.gov/pubmed/30970187
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1706594
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