Dyskeratosis congenita (DC) is a rare inherited multi-system disorder. Although DC is
classically characterized by mucocutaneous features, the vast majority of patients develop
hematologic abnormalities, and in its occult form the disease can present as aplastic
anemia. The gene responsible for the X-linked form of the disease encodes a protein
involved in ribosome biogenesis and in stabilizing the telomerase complex, while the
autosomal dominant form is caused by mutations in the core RNA component of telomerase …