Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations

Homozygous nonsense mutations in WNT2B were identified in three individuals from two unrelated families with severe, neonatal-onset osmotic diarrhea after whole-exome sequencing was performed on trios from the two families. Intestinal biopsy samples from affected individuals were used for histology...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: O’Connell, Amy E., Zhou, Fanny, Shah, Manasvi S., Murphy, Quinn, Rickner, Hannah, Kelsen, Judith, Boyle, John, Doyle, Jefferson J., Gangwani, Bharti, Thiagarajah, Jay R., Kamin, Daniel S., Goldsmith, Jeffrey D., Richmond, Camilla, Breault, David T., Agrawal, Pankaj B.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6035368/
https://ncbi.nlm.nih.gov/pubmed/29909964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.05.007
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados