Associated Papers
Evaluation of Quality and Bone Microarchitecture Alterations in Osteopetrosis Patients: Assessed by HR-PQCT.
Zhou R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis.
Wang X et al.
Frontiers in Pediatrics, 2023
Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report.
Song XL et al.
World Journal of Clinical Cases, 2022
The Role of the Lysosomal Cl-/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.
Zifarelli G
Cells, 2022
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.
Liang H et al.
Molecular Genetics & Genomic Medicine, 2021
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.
Di Zanni E et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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 (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.
Pang Q et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2016
A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.
Zeng B et al.
Gene, 2016
Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type II.
Zheng H et al.
Joint Bone Spine, 2014
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