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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...

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Detalhes bibliográficos
Publicado no:Inflamm Bowel Dis
Main Authors: Conrad, Máire A., Dawany, Noor, Sullivan, Kathleen E., Devoto, Marcella, Kelsen, Judith R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Acesso em linha: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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