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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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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145023/ https://www.ncbi.nlm.nih.gov/pubmed/32463623 http://dx.doi.org/10.14309/ctg.0000000000000129

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