Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients

• Prif Awduron: Gunadi (Awdur), Alvin Santoso Kalim (Awdur), Nova Yuli Prasetyo Budi (Awdur), Hamzah Muhammad Hafiq (Awdur), Annisa Maharani (Awdur), Maharani Febrianti (Awdur), Fiko Ryantono (Awdur), Dicky Yulianda (Awdur), Kristy Iskandar (Awdur), Joris A. Veltman (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: Frontiers Media S.A., 2020-03-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

Background: The semaphorin 3D (SEMA3D) gene has been implicated in the pathogenesis of Hirschsprung disease (HSCR), a complex genetic disorder characterized by the loss of ganglion cells in varying lengths of gastrointestinal tract. We wished to investigate the role of SEMA3D variants, both rare and...