Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2023.1098876
Abstract: 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,… read more here.
Keywords: dyskeratosis congenita; report novel; dkc; gene ... See more keywords