Fig. 4From: Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South AfricaValidation of the mutation using Sanger sequencing. The proband (indicated by the black arrow) and affected deceased brother are homozygous for TTC37 c.4507C > T (p.1503R > C), while both unaffected parents as well as the unaffected sibling are heterozygotesBack to article page