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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Detalles Bibliográficos
Autores principales: Roake, Caitlin M., Juntilla, Marisa, Agarwal-Hashmi, Rajni, Artandi, Steven, Kuo, Christin S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8437149/
https://www.ncbi.nlm.nih.gov/pubmed/34522616
http://dx.doi.org/10.1016/j.ehpc.2021.200517

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8437149/
https://www.ncbi.nlm.nih.gov/pubmed/34522616
http://dx.doi.org/10.1016/j.ehpc.2021.200517

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