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
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Benyelles M et al.
Human Molecular Genetics, 2020
Select a paper to view details