Associated Papers
Bone-in-bone and sandwich vertebrae in a 6-month-old infant with genetically confirmed fatal osteopetrosis: A case report.
Hou F et al.
Medicine, 2025
Bone Turnover Marker for the Evaluation of Skeletal Remodelling in Autosomal Recessive Osteopetrosis after Haematopoietic Stem Cell Transplantation: A Case Report.
Horváth M et al.
Children (basel, Switzerland), 2023
Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From Osteopetrosis.
Elson A et al.
Frontiers in Cell and Developmental Biology, 2021
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.
Susani L et al.
Human Mutation, 2004
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