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Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes
Monogenic inflammatory bowel disease (IBD) comprises rare Mendelian causes of gut inflammation, often presenting in infants with severe and atypical disease. This study aimed to identify clinically relevant variants within 68 monogenic IBD genes in an unselected pediatric IBD cohort. METHODS: Whole...
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| Publicat a: | Clin Transl Gastroenterol |
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| Autors principals: | , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wolters Kluwer
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7145023/ https://ncbi.nlm.nih.gov/pubmed/32463623 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14309/ctg.0000000000000129 |
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