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

Author:

Niu Q1ORCID,Shang X1,Liu Y1,Wang X2,Gou C1,Li X1

Affiliation:

1. Department of Integrative Chinese and Western Medicine, Beijing Youan Hospital, Capital Medical University , No. 8 Xitoutiao Outside You'anmen, Fengtai District , Beijing 100069, China

2. Department of Pathology, Beijing Youan Hospital, Capital Medical University , No. 8 Xitoutiao Outside You'anmen, Fengtai District , Beijing 100069, China

Funder

Municipal Natural Science Foundation of Beijing of China

Improving the Capacity for Emergency Services

Beijing Administration of Traditional Chinese Medicine

Publisher

Oxford University Press (OUP)

Subject

General Medicine

Reference6 articles.

1. Dyskeratosis congenita: a literature review;AlSabbagh;J Dtsch Dermatol Ges,2020

2. Hepatic manifestations of telomere biology disorders;Patnaik;J Hepatol,2018

3. Short telomere syndrome and fibrosis;Al-Issa;QJM,2016

4. NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Hoyeraal-Hreidarsson syndrome;Benyelles;Hum Mol Genet,2020

5. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita;Vulliamy;Proc Natl Acad Sci USA,2008

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