A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita
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DOI: 10.1097/md.0000000000010724
Abstract: Rationale: Dyskeratosis congenita (DC) is a rare inherited disease characterized by the classical mucocutaneous triad. Pulmonary fibrosis, bone marrow failure, and solid tumors are the main causes of mortality in DC. Pathogenic variants in TERT,… read more here.
Keywords: fibrosis; dyskeratosis congenita; pulmonary fibrosis; tinf2 gene ... See more keywords