NRG1 variant effects in patients with Hirschsprung disease

• Ngā kaituhi matua: 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)
• Hōputu: Pukapuka
• I whakaputaina: BMC, 2018-09-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: 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...