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Hirschsprung disease, associated syndromes, and genetics: a review

Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intes...

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Autori principali: Amiel, J., Lyonnet, S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2001
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734759/
https://ncbi.nlm.nih.gov/pubmed/11694544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.11.729
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