Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report

BACKGROUND: Dyskeratosis congenita is a rare disease characterized by bone marrow failure and a clinical triad of oral leukoplakia, nail dystrophy, and abnormal skin pigmentation. The genetics of dyskeratosis congenita include mutations in genes involved in telomere maintenance, including TINF2. CAS...

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Detalles Bibliográficos
Autores principales: Picos-Cárdenas, Verónica Judith, Beltrán-Ontiveros, Saúl Armando, Cruz-Ramos, José Alfonso, Contreras-Gutiérrez, José Alfredo, Arámbula-Meraz, Eliakym, Angulo-Rojo, Carla, Guadrón-Llanos, Alma Marlene, Leal-León, Emir Adolfo, Cedano-Prieto, Dora María, Meza-Espinoza, Juan Pablo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9724540/
https://www.ncbi.nlm.nih.gov/pubmed/36483815
http://dx.doi.org/10.12998/wjcc.v10.i33.12440

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