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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Bibliografiska uppgifter
I publikationen:N Engl J Med
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2019
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Article
Länkar: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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