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Novel ZBTB24 mutation associated with immunodeficiency, centromere instability, and facial anomalies type 2 syndrome identified in a patient with very early onset inflammatory bowel disease
BACKGROUND: Very early onset inflammatory bowel disease, diagnosed in children ≤5 years of age, can be the initial presentation of some primary immunodeficiencies. METHODS: Here we describe a 17 month old boy with recurrent infections, growth failure, facial anomalies, and inflammatory bowel disease...
Gorde:
| Argitaratua izan da: | Inflamm Bowel Dis |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2017
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5685903/ https://ncbi.nlm.nih.gov/pubmed/29023266 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MIB.0000000000001280 |
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