Article
Pulmonary fibrosis in dyskeratosis congenita: report of 2 cases.
Human pathology - 1 Jan 2015
Dvorak Leah A, Vassallo Robert, Kirmani Salman, Johnson Geoffrey, Hartman Thomas E, Tazelaar Henry D, Leslie Kevin O, Colby Thomas V, Cockcroft Donald W, Churg Andrew M, Yi Eunhee S
Abstract excerpt
Dyskeratosis congenita (DC) is a disorder of poor telomere maintenance and is related to 1 or more mutations that involve the vertebrate telomerase RNA component. Most affected patients develop mucocutaneous manifestations and cytopenias in the peripheral blood between 5 and 15 years of age. DC p...
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