Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

Abstract excerpt

Dyskeratosis congenita (DC) is a hereditary disorder characterized by mucocutaneous manifestations, bone marrow failure, predisposition to malignancy, pulmonary and liver fibrosis and additional features.[1][1] X-linked recessive, autosomal recessive and autosomal dominant (AD) forms of inheritance

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