article_metadata: Ge Yu Guijie Xin Xu Liu Wanyu Li Chen Shao Runping Gao
article_metadata: 10.1186/s13256-025-05031-6
article_metadata: J Med Case Rep
article_metadata: 2025 Jan 23;19(1):32.
article_metadata: dyskeratosis congenita mutation porto-sinusoidal vascular disease telomerase reverse transcriptase telomere biology disorder
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39849589/
article_metadata: Dyskeratosis Congenita / complications Dyskeratosis Congenita / genetics Mutation Telomerase / genetics
article_metadata: Dyskeratosis Congenita / complications Dyskeratosis Congenita / genetics Mutation Telomerase / genetics Case Reports Adolescent Humans Hypertension, Portal / genetics Male Telomerase TERT protein, human
article_metadata: PMC11759448
article_metadata: 39849589
article_metadata: TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report
article_metadata: 2025