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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Publié dans:Am J Hum Genet
Auteurs principaux: 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
Langue:Inglês
Publié: Elsevier 2018
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Accès en ligne: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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