Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study.

K J O'BrienX ParisiN R ShelmanM A MeridethW J IntroneT HellerW A GahlM C V MalicdanBernadette R Gochuico

Published in: Journal of internal medicine (2021)

IBD resembling Crohn's disease affects some patients with HPS; genetic heterogeneity is a feature of HPS IBD. HPS3 is a new gene associated with human IBD. Very early-onset IBD can develop in HPS.

Keyphrases

early onset
ulcerative colitis
late onset
genome wide
endothelial cells
copy number
machine learning
case report
transcription factor
neural network