Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation

DC is a multisystem bone marrow failure syndrome exhibiting marked clinical and genetic heterogeneity. X‐linked, autosomal dominant and autosomal recessive subtypes are recognized. The gene mutated in X‐linked DC (DKC1) encodes a highly conserved nucleolar protein called dyskerin. Dyskerin associ…