NRG1 variant effects in patients with Hirschsprung disease

• Main Authors: Gunadi (Author), Nova Yuli Prasetyo Budi (Author), Raman Sethi (Author), Aditya Rifqi Fauzi (Author), Alvin Santoso Kalim (Author), Taufik Indrawan (Author), Kristy Iskandar (Author), Akhmad Makhmudi (Author), Indra Adrianto (Author), Lai Poh San (Author)
• Format: Book
• Published: BMC, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...