label: Dyskeratosis Congenita, Autosomal Dominant 3
label_lc: dyskeratosis congenita, autosomal dominant 3
description: "Dyskeratosis congenita caused by autosomal dominant mutation(s) in the TINF2 gene, encoding TERF1-interacting nuclear factor 2. Mutations in TINF2 may also lead to another phenotype known as Revesz syndrome (Dyskeratosis Congenita, Autosomal Dominant 5)."