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Dyskeratosis Congenita

Prevalence: 1/1000000

hematologic

Official·OMIM:305000 Official·ORPHA1775

Telomere shortening and bone marrow failure due to DKC1, TERT, and other gene mutations.

Associated Genes

DKC1Dyskerin Pseudouridine Synthase 1

Chromosome XX-Linked Recessive

TERTTelomerase Reverse Transcriptase

Chromosome 5Autosomal Dominant