Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita
Dyskeratosis congenita (DKC), also known as Zinsser–Cole–Engman syndrome, is a telomeropathy typically presenting as a triad of leukoplakia, nail dystrophy, and reticular hyperpigmentation. Reported genetic mutations linked to DKC include DKC1, TINF2, TERC, TERT, C16orf57, NOLA2, NOLA3, WRAP53/TCAB1...
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| Huvudupphov: | , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
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Frontiers Media S.A.
2023-03-01
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| Serie: | Frontiers in Oncology |
| Ämnen: | |
| Länkar: | https://www.frontiersin.org/articles/10.3389/fonc.2023.1098876/full |
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