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A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

BACKGROUND: Children with very early-onset inflammatory bowel disease (VEO-IBD), those diagnosed at less than 5 years of age, are a unique population. A subset of these patients present with a distinct phenotype and more severe disease than older children and adults. Host genetics is thought to play...

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Detalles Bibliográficos
Autores principales: Kelsen, Judith R., Dawany, Noor, Martinez, Alejuandro, Grochowski, Christopher M., Maurer, Kelly, Rappaport, Eric, Piccoli, David A., Baldassano, Robert N., Mamula, Petar, Sullivan, Kathleen E., Devoto, Marcella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652404/
https://www.ncbi.nlm.nih.gov/pubmed/26581487
http://dx.doi.org/10.1186/s12876-015-0394-z