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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Detalles Bibliográficos
Autores principales: Nisar, Haider, Khan, Memoona, Chaudhry, Qamar Un Nisa, Iftikhar, Raheel, Ghafoor, Tariq
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017992/
https://www.ncbi.nlm.nih.gov/pubmed/36937416
http://dx.doi.org/10.3389/fonc.2023.1098876

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