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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Pubblicato in:Clin Transl Gastroenterol
Autori principali: Ashton, James J., Mossotto, Enrico, Stafford, Imogen S., Haggarty, Rachel, Coelho, Tracy A.F., Batra, Akshay, Afzal, Nadeem A., Mort, Matthew, Bunyan, David, Beattie, Robert Mark, Ennis, Sarah
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer 2020
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Article
Accesso online: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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