- Genetic variants detected in the genes described in the literature as responsible for the IEL disease (ADAMTSL4, FBN1, LTBP2, ADAMTS10, ADAMTS17) with a missense, a frameshift or a nonsense mutation. The frameshift c.5439_5440insA mutation in exon 36 of the LTBP2 gene, reported for the first time in this work, is indicated in red. In the “Genotype” column: Hom should read homozygous and Het should read heterozygous
