Associated Papers
Fractures are Highly Correlated with Bone Density and Inversely Correlated with Bone Turnover Markers in Autosomal Dominant Osteopetrosis.
Econs MJ et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study.
Polgreen LE et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers.
Chen X et al.
Frontiers in Endocrinology, 2024
The Role of the Lysosomal Cl-/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.
Zifarelli G
Cells, 2022
Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.
Wang Z et al.
Frontiers in Endocrinology, 2022
Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.
Kim SJ et al.
Frontiers in Genetics, 2021
A Novel Variant in CLCN7 Regulates the Coupling of Angiogenesis and Osteogenesis.
Peng H et al.
Frontiers in Cell and Developmental Biology, 2020
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.
Zhang X et al.
Postgraduate Medicine, 2017
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
Pangrazio A et al.
Human Mutation, 2010
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