Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.
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ABSTRACT:
SUBMITTER: Dinwiddie DL
PROVIDER: S-EPMC8142851 | biostudies-literature | 2013 Nov-Dec
REPOSITORIES: biostudies-literature
Publications
Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.
Dinwiddie Darrell L DL Bracken Julia M JM Bass Julie A JA Christenson Kathy K Soden Sarah E SE Saunders Carol J CJ Miller Neil A NA Singh Vivekanand V Zwick David L DL Roberts Charles C CC Dalal Jignesh J Kingsmore Stephen F SF Kingsmore Stephen F SF
Genomics 20130831 5-6
Pediatric-onset inflammatory bowel disease (IBD) is known to be associated with severe disease, poor response to therapy, and increased morbidity and mortality. We conducted exome sequencing of two brothers from a non-consanguineous relationship who presented before the age of one with severe infantile-onset IBD, failure to thrive, skin rash, and perirectal abscesses refractory to medical management. We examined the variants discovered in all known IBD-associated and primary immunodeficiency gen ...[more]
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