Tissue-specific telomere shortening and degenerative changes in a patient with TINF2 mutation and dyskeratosis congenita

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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Bibliographic Details
Main Authors: Caitlin M. Roake, Marisa Juntilla, Rajni Agarwal-Hashmi, Steven Artandi, Christin S. Kuo
Format: Article
Language:English
Published: Elsevier 2021-09-01
Series:Human Pathology: Case Reports
Subjects:
Dyskeratosis congenita
Telomere length
Hypoxemia
Pediatric bone marrow failure
Online Access:http://www.sciencedirect.com/science/article/pii/S2214330021000468

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http://www.sciencedirect.com/science/article/pii/S2214330021000468

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