A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita

RATIONALE: Dyskeratosis congenita (DC) is a rare inherited disease characterized by the classical mucocutaneous triad. Pulmonary fibrosis, bone marrow failure, and solid tumors are the main causes of mortality in DC. Pathogenic variants in TERT, TERC, and DKC1 have been identified in individuals wit...

Descripción completa

Detalles Bibliográficos
Autores principales: Du, Hongchun, Guo, Yubiao, Ma, Di, Tang, Kejing, Cai, Decheng, Luo, Yifeng, Xie, Canmao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959423/
https://www.ncbi.nlm.nih.gov/pubmed/29742735
http://dx.doi.org/10.1097/MD.0000000000010724

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959423/
https://www.ncbi.nlm.nih.gov/pubmed/29742735
http://dx.doi.org/10.1097/MD.0000000000010724

Ejemplares similares