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Article

Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.

The Journal of international medical research - 1 Feb 2021

Gunadi, Ryantono Fiko, Sethi Raman, Marcellus, Kalim Alvin Santoso, Imelda Priscillia, Melati Devy, Simanjaya Susan, Widitjiarso William, Pitaka Ririd Tri, Arfian Nur, Iskandar Kristy, Makhmudi Akhmad, Lai Poh San

Abstract excerpt

OBJECTIVE: Cluster genes, specifically the class 3 semaphorins (SEMA3) including SEMA3C, have been associated with the development of Hirschsprung disease (HSCR) in Caucasian populations. We aimed to screen for rare and common variants in SEMA3C in Indonesian patients with HSCR. METHODS: In this prospective clinical study, we analyzed SEMA3C gene variants in 55 patients with HSCR through DNA sequencing and...

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PMID: 33557656
DOI: 10.1177/0300060520987789
PMCID: PMC7876767

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