Dyskeratosis congenita is a multisystem disorder associated with premature mortality, typically due to bone marrow failure. This in turn may enable harvest of the patient's bone marrow before marrow failure. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. A telomerase component is defective in the human disease dyskeratosis congenita. Medicine is a constantly changing science and not all therapies are clearly established.
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