Associated Papers
Idiopathic non-cirrhotic portal hypertension in dyskeratosis congenita with rare variant of NHP2.
Niu Q et al.
Qjm : Monthly Journal of the Association of Physicians, 2023
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M et al.
Genes, 2022
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Benyelles M et al.
Human Molecular Genetics, 2020
Long-Term Follow-Up of a Case with Dyskeratosis Congenita Caused by NHP2-V126M/X154R Mutation: Genotype-Phenotype Association.
Erdem M et al.
Acta Haematologica, 2019
Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
Trahan C et al.
Human Molecular Genetics, 2010
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Vulliamy T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
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