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Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Dise...

Ouahed, J; Kelsen, JR; Spessott, WA; Kooshesh, K; Sanmillan, ML; Dawany, N; Sullivan, KE; Hamilton, KE; Slowik, V; Nejentsev, S; Farela Neves, J

Background and aims: Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies of VEOIBD have been identified, many characterized by highly penetrant recessive or dominant variants in underlying immune and/or epithelial pathways. We sought to identify the genetic cause of VEOIBD...

Date: 2021   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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