Tissue-specific telomere shortening and degenerative changes in a patient with TINF2 mutation and dyskeratosis congenita
Dyskeratosis congenita is a disease of impaired tissue maintenance downstream of telomere dysfunction. Characteristically, patients present with the clinical triad of nail dystrophy, oral leukoplakia, and skin pigmentation defects, but the disease involves degenerative changes in multiple organs. Mu...
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Elsevier,
2021-09-01T00:00:00Z.
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