AB053. NRG1 rare variant effects in Hirschsprung disease patients

BACKGROUND: Hirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along intestines resulting in functional bowel obstruction. NRG1 gene has been implicated in the intestinal ganglionosis. This study aimed to investigate the contribution of NRG1 ge...

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Udgivet i:Ann Transl Med
Main Authors: Gunadi, Budi, Nova, Iskandar, Kristy, Adrianto, Indra
Format: Artigo
Sprog:Inglês
Udgivet: AME Publishing Company 2017
Fag:
Complex Genetic Disorders, Genetic Susceptibility to Infections
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641796/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s053
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