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A81 FUNCTIONAL ANALYSIS IMPLICATING SAMD9 MUTATION FOR INTESTINAL INFLAMMATION IN PATIENTS WITH MIRAGE SYNDROME AND INFLAMMATORY BOWEL DISEASE
BACKGROUND: MIRAGE syndrome is caused by heterozygous mutation in the SAMD9 gene. The syndrome is characteristic of enteropathy, and is often fatal within the first 2 years of life. However, the pathogenesis of enteropathy in the syndrome is unknown. AIMS: We present a case of MIRAGE syndrome (gesta...
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| Publicado no: | J Can Assoc Gastroenterol |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6508440/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jcag/gwy009.081 |
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