A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View.
Sign Up to like & getrecommendations! Published in 2022 at "Acta dermato-venereologica"
DOI: 10.2340/actadv.v102.919
Abstract: Abstract is missing (Short communication) read more here.
Keywords: dyskeratosis congenita; rtel1 gene; pathogenic variant; new pathogenic ... See more keywords
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