Journal article icon

Journal article

Prevalence and clinical features of inflammatory bowel diseases associated with monogenetic variants, identified by whole-exome sequencing in 1000 children at a single center

Abstract:

Background & Aims:
A proportion of infants and young children with inflammatory bowel diseases (IBDs) have subtypes associated with a single gene variant (monogenic IBD). We aimed to determine the prevalence of monogenic disease in a cohort of pediatric patients with IBD.


Methods:
We performed whole-exome sequencing analyses of blood samples from an unselected cohort of 1005 children with IBD, aged 0–18 years (median age at diagno...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Files:
Publisher copy:
10.1053/j.gastro.2020.02.023

Authors


Publisher:
Elsevier
Journal:
Gastroenterology More from this journal
Volume:
158
Issue:
8
Pages:
2208-2220
Publication date:
2020-02-18
Acceptance date:
2020-02-06
DOI:
EISSN:
1528-0012
ISSN:
0016-5085
Pmid:
32084423
Language:
English
Keywords:
Pubs id:
1090354
Local pid:
pubs:1090354
Deposit date:
2020-08-31

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP