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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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Detalles Bibliográficos
Autores principales: Gunadi, Kalim, Alvin Santoso, Marcellus, Budi, Nova Yuli Prasetyo, Iskandar, Kristy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019992/
https://www.ncbi.nlm.nih.gov/pubmed/35443634
http://dx.doi.org/10.1186/s12887-022-03287-1