Associated Papers
Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature.
Sürücü Kara İ et al.
Molecular Syndromology, 2025
A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.
Villeneuve J et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.
Maliński B et al.
Human Molecular Genetics, 2023
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Benyelles M et al.
Human Molecular Genetics, 2020
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