Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis

WNT2B is a member of the Wnt family, a group of signal transduction proteins involved in embryologic development and stem cell renewal and maintenance. We recently reported homozygous nonsense variants in WNT2B in three individuals with severe, neonatal-onset diarrhea, and intestinal failure. Here w...

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Detalles Bibliográficos
Autores principales: Zhang, Yanjia Jason, Jimenez, Lissette, Azova, Svetlana, Kremen, Jessica, Chan, Yee-Ming, Elhusseiny, Abdelrahman M., Saeed, Hajirah, Goldsmith, Jeffrey, Al-Ibraheemi, Alyaa, O’Connell, Amy E., Kovbasnjuk, Olga, Rodan, Lance, Agrawal, Pankaj B., Thiagarajah, Jay R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8187348/
https://www.ncbi.nlm.nih.gov/pubmed/33526876
http://dx.doi.org/10.1038/s41431-021-00812-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8187348/
https://www.ncbi.nlm.nih.gov/pubmed/33526876
http://dx.doi.org/10.1038/s41431-021-00812-1

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