NRG1 variant effects in patients with Hirschsprung disease

NRG1 variant effects in patients with Hirschsprung disease

Abstract Background Hirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along the intestines resulting in functional bowel obstruction. Mutations in neuregulin 1 (NRG1) gene have been implicated in some cases of intestinal aganglionosis. This st...

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Bibliographic Details
Main Authors: Gunadi, Nova Yuli Prasetyo Budi, Raman Sethi, Aditya Rifqi Fauzi, Alvin Santoso Kalim, Taufik Indrawan, Kristy Iskandar, Akhmad Makhmudi, Indra Adrianto, Lai Poh San
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Pediatrics
Subjects:
Hirschsprung disease
Indonesia
NRG1 variant
Transcription factor binding motif
Online Access:http://link.springer.com/article/10.1186/s12887-018-1265-x

Internet

http://link.springer.com/article/10.1186/s12887-018-1265-x

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