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- Title
Idiopathic non-cirrhotic portal hypertension in dyskeratosis congenita with rare variant of NHP2.
- Authors
Niu, Q; Shang, X; Liu, Y; Wang, X; Gou, C; Li, X
- Abstract
Case report Dyskeratosis congenita is a short telomere disorder caused by several gene mutations, with an estimated prevalence of 1/1 000 000 over the world.[1] It is usually characterized by multisystem features, such as mucocutaneous lesions, bone marrow failure and cancer predisposition. Herein, we reported a patient who presented idiopathic non-cirrhotic portal hypertension in dyskeratosis congenita with the telomere length disorder and rare variant of NHP2. Learning points for clinicians NHP2 is a rare autosomal recessive mutation in short telomere disorder, and only few variants have been identified.
- Subjects
PORTAL hypertension; PORTAL vein diseases; GENETIC variation; IDIOPATHIC pulmonary fibrosis; BONE marrow cancer
- Publication
QJM: An International Journal of Medicine, 2023, Vol 116, Issue 7, p553
- ISSN
1460-2725
- Publication type
Article
- DOI
10.1093/qjmed/hcad039