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Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.

08:00 EDT 11th April 2019 | BioPortfolio

Summary of "Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease."

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 common sequence variants in genes related to the enteric nervous system, as well as with monogenic and chromosomal syndromes.

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Journal Details

This article was published in the following journal.

Name: The New England journal of medicine
ISSN: 1533-4406
Pages: 1421-1432

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