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...

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Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2018
Fag:
Report
Online adgang: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
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