Publications by authors named "Mirjam Vanderberg"
Article Synopsis
- A study of 25 Iranian patients with infantile inflammatory bowel disease (IBD) revealed that 56% had identifiable monogenic defects through whole exome sequencing.
- Four patients had specific missense mutations and one had a large deletion, while others had mutations affecting host:microbiome balance or combined immunodeficiencies.
- The majority of patients with monogenic defects resulted from consanguineous relationships, with only 4 of the 14 patients still alive.
