Idiopathic non-cirrhotic portal hypertension in dyskeratosis congenita with rare variant of NHP2

被引:4
作者
Niu, Q. [1 ]
Shang, X. [1 ]
Liu, Y. [1 ]
Wang, X. [2 ]
Gou, C. [1 ]
Li, X. [1 ]
机构
[1] Capital Med Univ, Beijing Youan Hosp, Dept Integrat Chinese & Western Med, 8 Xitoutiao Outside Youanmen, Beijing 100069, Peoples R China
[2] Capital Med Univ, Beijing Youan Hosp, Dept Pathol, 8 Xitoutiao Outside Youanmen, Beijing 100069, Peoples R China
关键词
D O I
10.1093/qjmed/hcad039
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:553 / 555
页数:3
相关论文
共 6 条
[1]   Short telomere syndrome and fibrosis [J].
Al-Issa, K. ;
Tolle, L. B. ;
Purysko, A. S. ;
Hanouneh, I. A. .
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2016, 109 (02) :125-126
[2]  
AlSabbagh MM, 2020, J DTSCH DERMATOL GES, V18, P943, DOI [10.1111/ddg.14268_g, 10.1111/ddg.14268]
[3]   NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Hoyeraal-Hreidarsson syndrome [J].
Benyelles, Maname ;
O'donohue, Marie-Francoise ;
Kermasson, Laetitia ;
Lainey, Elodie ;
Borie, Raphael ;
Lagresle-Peyrou, Chantal ;
Nunes, Hilario ;
Cazelles, Clarisse ;
Fourrage, Cecile ;
Ollivier, Emmanuelle ;
Marcais, Ambroise ;
Gamez, Anne-Sophie ;
Morice-Picard, Fanny ;
Caillaud, Denis ;
Pottier, Nicolas ;
Menard, Christelle ;
Ba, Ibrahima ;
Fernandes, Alicia ;
Crestani, Bruno ;
de Villartay, Jean-Pierre ;
Gleizes, Pierre-Emmanuel ;
Callebaut, Isabelle ;
Kannengiesser, Caroline ;
Revy, Patrick .
HUMAN MOLECULAR GENETICS, 2020, 29 (06) :907-+
[4]   Long-Term Follow-Up of a Case with Dyskeratosis Congenita Caused by NHP2-V126M/X154R Mutation: Genotype-Phenotype Association [J].
Erdem, Melek ;
Tufekci, Ozlem ;
Yilmaz, Sebnem ;
Alacacioglu, Inci ;
Oren, Hale .
ACTA HAEMATOLOGICA, 2019, 141 (01) :28-31
[5]   Hepatic manifestations of telomere biology disorders [J].
Patnaik, Mrinal M. ;
Kamath, Patrick S. ;
Simonetto, Douglas A. .
JOURNAL OF HEPATOLOGY, 2018, 69 (03) :736-743
[6]   Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita [J].
Vulliamy, Tom ;
Beswick, Richard ;
Kirwan, Michael ;
Marrone, Anna ;
Digweed, Martin ;
Walne, Amanda ;
Dokal, Inderjeet .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (23) :8073-8078