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Microvillus Inclusion Disease Variant in an Infant with Intractable Diarrhea
Microvillus inclusion disease (MVID) is a rare autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea. We report a case of MVID variant with a homozygous gene mutation in syntaxin 3 (STX3). The patient is a male Saudi infant who presented shortly after birth with...
保存先:
| 出版年: | Case Rep Gastroenterol |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
S. Karger AG
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5731099/ https://ncbi.nlm.nih.gov/pubmed/29282386 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000479624 |
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