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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 |
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| Auteurs principaux: | , , , , , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Elsevier
2018
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| Sujets: | |
| 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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