Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients

Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients

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...

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Main Authors: Gunadi, Alvin Santoso Kalim, Nova Yuli Prasetyo Budi, Hamzah Muhammad Hafiq, Annisa Maharani, Maharani Febrianti, Fiko Ryantono, Dicky Yulianda, Kristy Iskandar, Joris A. Veltman
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-03-01
Series:Frontiers in Pediatrics
Subjects:
aberrant expression
Hirschsprung disease
Indonesia
SEMA3D
rare and common variants
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00060/full

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