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

Principais autores:	Haider Nisar, Memoona Khan, Qamar Un Nisa Chaudhry, Raheel Iftikhar, Tariq Ghafoor
Formato:	Artigo
Idioma:	Inglês
Publicado:	Frontiers Media S.A. 2023-03-01
Series:	Frontiers in Oncology
Assuntos:	dyskeratosis congenita heterozygous mutation RTEL1 telomere biology disorders
Acceso en liña:	https://www.frontiersin.org/articles/10.3389/fonc.2023.1098876/full
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