The impact of NRG1 expressions and methylation on multifactorial Hirschsprung disease

Background: Hirschsprung disease (HSCR) is a complex genetic disorder characterized by the lack of ganglion cells in the intestines. A current study showed that the NRG1 rare variant frequency in Indonesian patients with HSCR is only 0.9%. Here, we investigated the impact of NRG1 expressions and met...

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Main Authors: Gunadi, Gunadi, Kalim, Alvin Santoso, Marcellus, Marcellus, Budi, Nova Yuli Prasetyo, Iskandar, Kristy
Format: Article PeerReviewed
Language:English
Published: BioMed Central Ltd 2022
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Online Access:https://repository.ugm.ac.id/283809/1/238.pdf
https://repository.ugm.ac.id/283809/
https://link.springer.com/content/pdf/10.1186/s12887-022-03287-1.pdf
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Institution: Universitas Gadjah Mada
Language: English