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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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Elsevier 2018
Schlagworte:
Report
Online Zugang: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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