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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Vydáno v:J Can Assoc Gastroenterol
Hlavní autoři: Ishige, T, Guo, C, Warner, N, Pan, J, Hossain, K, Dhingani, N, Murchie, R, Muise, A
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
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On-line přístup: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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