A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism

BACKGROUND & AIMS: Hirschsprung disease (HSCR) is a congenital disorder characterized by the absence of the enteric nervous system (ENS). HSCR potentially involves multiple gene aberrations and displays complex patterns of inheritance. Mutations of the RET gene, encoding the RET receptor tyrosin...

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Detalles Bibliográficos
Autores principales: Sunardi, Mukhamad, Ito, Keisuke, Sato, Yuya, Uesaka, Toshihiro, Iwasaki, Mitsuhiro, Enomoto, Hideki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242352/
https://www.ncbi.nlm.nih.gov/pubmed/36521661
http://dx.doi.org/10.1016/j.jcmgh.2022.12.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242352/
https://www.ncbi.nlm.nih.gov/pubmed/36521661
http://dx.doi.org/10.1016/j.jcmgh.2022.12.003

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